Ontology description
| (rdf:type owl:Ontology ) | |
|---|---|
| dc:creator | "Hiroshi Masuya" xsd:string |
| dc:creator | "Kota Ninomiya" xsd:string |
| dc:creator | "Orion Buske" xsd:string |
| dc:creator | "Ryota Yamada" xsd:string |
| dc:creator | "Shuichi Kawashima" xsd:string |
| dc:creator | "Soichi Ogishima" xsd:string |
| dc:creator | "Toshiaki Katayama" xsd:string |
| dc:creator | "Toyofumi Fujiwara" xsd:string |
| dc:creator | "Yasunori Yamamoto" xsd:string |
| dc:creator | "Yuki Chida" xsd:string |
| dcterms:created | "2019-10-29T16:00:00" xsd:dateTime |
| dcterms:license | https://creativecommons.org/licenses/by/4.0/ |
| dcterms:modified | "2019-10-29T16:00:00" xsd:dateTime |
| owl:versionIRI | http://nanbyodata.jp/version0.1 |
| owl:versionInfo | "0.1" xsd:string |
Classes
| http://nanbyodata.jp/ontology/nanbyo#0000001 (rdf:type owl:Class ) | |
|---|---|
| dcterms:identifier | "0000001" xsd:string |
| rdfs:label | "難病疾患分類" @ja |
| http://nanbyodata.jp/ontology/nanbyo#0000002 (rdf:type owl:Class ) | |
|---|---|
| dcterms:identifier | "0000002" xsd:string |
| hasExactSynonym | "Neuromuscular disease" @en |
| rdfs:label | "神経・筋疾患" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#0000001 |
| http://nanbyodata.jp/ontology/nanbyo#0000003 (rdf:type owl:Class ) | |
|---|---|
| dcterms:identifier | "0000003" xsd:string |
| hasExactSynonym | "Metabolic disease" @en |
| rdfs:label | "代謝系疾患" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#0000001 |
| http://nanbyodata.jp/ontology/nanbyo#0000004 (rdf:type owl:Class ) | |
|---|---|
| dcterms:identifier | "0000004" xsd:string |
| hasExactSynonym | "Skin and connective tissue disease" @en |
| rdfs:label | "皮膚・結合組織疾患" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#0000001 |
| http://nanbyodata.jp/ontology/nanbyo#0000005 (rdf:type owl:Class ) | |
|---|---|
| dcterms:identifier | "0000005" xsd:string |
| hasExactSynonym | "Immune system disease" @en |
| rdfs:label | "免疫系疾患" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#0000001 |
| http://nanbyodata.jp/ontology/nanbyo#0000006 (rdf:type owl:Class ) | |
|---|---|
| dcterms:identifier | "0000006" xsd:string |
| hasExactSynonym | "Cardiovascular disease" @en |
| rdfs:label | "循環器系疾患" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#0000001 |
| http://nanbyodata.jp/ontology/nanbyo#0000007 (rdf:type owl:Class ) | |
|---|---|
| dcterms:identifier | "0000007" xsd:string |
| hasExactSynonym | "Blood disease" @en |
| rdfs:label | "血液系疾患" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#0000001 |
| http://nanbyodata.jp/ontology/nanbyo#0000008 (rdf:type owl:Class ) | |
|---|---|
| dcterms:identifier | "0000008" xsd:string |
| hasExactSynonym | "Renal and urological disease" @en |
| rdfs:label | "腎・泌尿器系疾患" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#0000001 |
| http://nanbyodata.jp/ontology/nanbyo#0000009 (rdf:type owl:Class ) | |
|---|---|
| dcterms:identifier | "0000009" xsd:string |
| hasExactSynonym | "Bone and joint disease" @en |
| rdfs:label | "骨・関節系疾患" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#0000001 |
| http://nanbyodata.jp/ontology/nanbyo#0000010 (rdf:type owl:Class ) | |
|---|---|
| dcterms:identifier | "0000010" xsd:string |
| hasExactSynonym | "Endocrine disease" @en |
| rdfs:label | "内分泌系疾患" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#0000001 |
| http://nanbyodata.jp/ontology/nanbyo#0000011 (rdf:type owl:Class ) | |
|---|---|
| dcterms:identifier | "0000011" xsd:string |
| hasExactSynonym | "Respiratory disease" @en |
| rdfs:label | "呼吸器系疾患" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#0000001 |
| http://nanbyodata.jp/ontology/nanbyo#0000012 (rdf:type owl:Class ) | |
|---|---|
| dcterms:identifier | "0000012" xsd:string |
| hasExactSynonym | "Eye and visual system disease" @en |
| rdfs:label | "視覚系疾患" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#0000001 |
| http://nanbyodata.jp/ontology/nanbyo#0000013 (rdf:type owl:Class ) | |
|---|---|
| dcterms:identifier | "0000013" xsd:string |
| hasExactSynonym | "Hearing and balance disorder" @en |
| rdfs:label | "聴覚・平衡機能系疾患" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#0000001 |
| http://nanbyodata.jp/ontology/nanbyo#0000014 (rdf:type owl:Class ) | |
|---|---|
| dcterms:identifier | "0000014" xsd:string |
| hasExactSynonym | "Gastrointestinal disease" @en |
| rdfs:label | "消化器系疾患" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#0000001 |
| http://nanbyodata.jp/ontology/nanbyo#0000015 (rdf:type owl:Class ) | |
|---|---|
| dcterms:identifier | "0000015" xsd:string |
| hasExactSynonym | "Chromosome abnormality" @en |
| rdfs:label | "染色体または遺伝子に変化を伴う症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#0000001 |
| http://nanbyodata.jp/ontology/nanbyo#0000016 (rdf:type owl:Class ) | |
|---|---|
| dcterms:identifier | "0000016" xsd:string |
| hasExactSynonym | "Otorhinolaryngological disease" @en |
| rdfs:label | "耳鼻科系疾患" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000001 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "1" xsd:string |
| dcterms:identifier | "1000001" xsd:string |
| hasExactSynonym | "Spinal and bulbar muscular atrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/001-201704-kojin.pdf |
| rdfs:label | "球脊髄性筋萎縮症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010735 |
| http://nanbyodata.jp/ontology/nanbyo#1000002 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "2" xsd:string |
| dcterms:identifier | "1000002" xsd:string |
| hasExactSynonym | "Amyotrophic lateral sclerosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/002-201704-kojin.pdf |
| rdfs:label | "筋萎縮性側索硬化症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0004976 |
| http://nanbyodata.jp/ontology/nanbyo#1000003 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "3" xsd:string |
| dcterms:identifier | "1000003" xsd:string |
| hasExactSynonym | "Spinal muscular atrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/003-201704-kojin.pdf |
| rdfs:label | "脊髄性筋萎縮症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001516 |
| http://nanbyodata.jp/ontology/nanbyo#1000004 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "3" xsd:string |
| dcterms:identifier | "1000004" xsd:string |
| hasExactSynonym | "Spinal muscular atrophy type1" @en |
| hasExactSynonym | "Werdnig-Hoffmann disease" @en |
| hasExactSynonym | "ウェルドニッヒ・ホフマン病" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/003-201704-kojin.pdf |
| rdfs:label | "脊髄性筋萎縮症 I 型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000003 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009669 |
| http://nanbyodata.jp/ontology/nanbyo#1000005 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "3" xsd:string |
| dcterms:identifier | "1000005" xsd:string |
| hasExactSynonym | "Dubowitz disease" @en |
| hasExactSynonym | "Spinal muscular atrophy type2" @en |
| hasExactSynonym | "デュボビッツ病" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/003-201704-kojin.pdf |
| rdfs:label | "脊髄性筋萎縮症 II 型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000003 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009124 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009673 |
| http://nanbyodata.jp/ontology/nanbyo#1000006 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "3" xsd:string |
| dcterms:identifier | "1000006" xsd:string |
| hasExactSynonym | "Kugelberg-Welander disease" @en |
| hasExactSynonym | "Spinal muscular atrophy type3" @en |
| hasExactSynonym | "クーゲンベルグ・ウェランダー病" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/003-201704-kojin.pdf |
| rdfs:label | "脊髄性筋萎縮症 III 型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000003 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009672 |
| http://nanbyodata.jp/ontology/nanbyo#1000007 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "3" xsd:string |
| dcterms:identifier | "1000007" xsd:string |
| hasExactSynonym | "SMA type4" @en |
| hasExactSynonym | "Spinal muscular atrophy type4" @en |
| hasExactSynonym | "成人発症型" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/003-201704-kojin.pdf |
| rdfs:label | "脊髄性筋萎縮症 IV 型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000003 |
| http://nanbyodata.jp/ontology/nanbyo#1000008 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "4" xsd:string |
| dcterms:identifier | "1000008" xsd:string |
| hasExactSynonym | "Primary lateral sclerosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/004-201704-kojin.pdf |
| rdfs:label | "原発性側索硬化症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018155 |
| http://nanbyodata.jp/ontology/nanbyo#1000009 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "5" xsd:string |
| dcterms:identifier | "1000009" xsd:string |
| hasExactSynonym | "Progressive supranuclear palsy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/005-201704-kojin.pdf |
| rdfs:label | "進行性核上性麻痺" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019037 |
| http://nanbyodata.jp/ontology/nanbyo#1000010 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "6" xsd:string |
| dcterms:identifier | "1000010" xsd:string |
| hasExactSynonym | "Parkinson disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/006-201804-kojin.pdf |
| rdfs:label | "パーキンソン病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005180 |
| http://nanbyodata.jp/ontology/nanbyo#1000011 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "7" xsd:string |
| dcterms:identifier | "1000011" xsd:string |
| hasExactSynonym | "Corticobasal degeneration" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/007-201704-kojin.pdf |
| rdfs:label | "大脳皮質基底核変性症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0022308 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0022880 |
| http://nanbyodata.jp/ontology/nanbyo#1000012 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "8" xsd:string |
| dcterms:identifier | "1000012" xsd:string |
| hasExactSynonym | "Huntington disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/008-201704-kojin.pdf |
| rdfs:label | "ハンチントン病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007739 |
| http://nanbyodata.jp/ontology/nanbyo#1000013 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "9" xsd:string |
| dcterms:identifier | "1000013" xsd:string |
| hasExactSynonym | "Neuroacanthocytosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/009-201704-kojin.pdf |
| rdfs:label | "神経有棘赤血球症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008695 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016987 |
| http://nanbyodata.jp/ontology/nanbyo#1000014 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "9" xsd:string |
| dcterms:identifier | "1000014" xsd:string |
| hasExactSynonym | "Choreoacanthocytosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/009-201704-kojin.pdf |
| rdfs:label | "有棘赤血球舞踏病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000013 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008695 |
| http://nanbyodata.jp/ontology/nanbyo#1000015 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "9" xsd:string |
| dcterms:identifier | "1000015" xsd:string |
| hasExactSynonym | "McLeod syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/009-201704-kojin.pdf |
| rdfs:label | "Mcleod症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000013 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018945 |
| http://nanbyodata.jp/ontology/nanbyo#1000016 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "10" xsd:string |
| dcterms:identifier | "1000016" xsd:string |
| hasExactSynonym | "Charcot-Marie-Tooth disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/010-201704-kojin.pdf |
| rdfs:label | "シャルコー・マリー・トゥース病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015626 |
| http://nanbyodata.jp/ontology/nanbyo#1000017 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "10" xsd:string |
| dcterms:identifier | "1000017" xsd:string |
| hasExactSynonym | "Charcot-Marie-Tooth disease type 1" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/010-201704-kojin.pdf |
| rdfs:label | "脱髄型CMT" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000016 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019011 |
| http://nanbyodata.jp/ontology/nanbyo#1000018 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "10" xsd:string |
| dcterms:identifier | "1000018" xsd:string |
| hasExactSynonym | "Charcot-Marie-Tooth disease type 2" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/010-201704-kojin.pdf |
| rdfs:label | "軸索型CMT" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000016 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018993 |
| http://nanbyodata.jp/ontology/nanbyo#1000019 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "10" xsd:string |
| dcterms:identifier | "1000019" xsd:string |
| hasExactSynonym | "Intermediate Charcot-Marie-Tooth disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/010-201704-kojin.pdf |
| rdfs:label | "中間型CMT" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000016 |
| http://nanbyodata.jp/ontology/nanbyo#1000020 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "11" xsd:string |
| dcterms:identifier | "1000020" xsd:string |
| hasExactSynonym | "Myasthenia gravis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/011-201704-kojin.pdf |
| rdfs:label | "重症筋無力症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009688 |
| http://nanbyodata.jp/ontology/nanbyo#1000021 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "12" xsd:string |
| dcterms:identifier | "1000021" xsd:string |
| hasExactSynonym | "Congenital myasthenic syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/012-201704-kojin.pdf |
| rdfs:label | "先天性筋無力症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018940 |
| http://nanbyodata.jp/ontology/nanbyo#1000022 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "13" xsd:string |
| dcterms:identifier | "1000022" xsd:string |
| hasExactSynonym | "Multiple sclerosis/Neuromyelitis Optica" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/013-201704-kojin.pdf |
| rdfs:label | "多発性硬化症／視神経脊髄炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000023 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "13" xsd:string |
| dcterms:identifier | "1000023" xsd:string |
| hasExactSynonym | "Multiple sclerosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/013-201704-kojin.pdf |
| rdfs:label | "多発性硬化症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000022 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005301 |
| http://nanbyodata.jp/ontology/nanbyo#1000024 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "13" xsd:string |
| dcterms:identifier | "1000024" xsd:string |
| hasExactSynonym | "Relapsing-remitting multiple sclerosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/013-201704-kojin.pdf |
| rdfs:label | "再発寛解型MS" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000023 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005314 |
| http://nanbyodata.jp/ontology/nanbyo#1000025 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "13" xsd:string |
| dcterms:identifier | "1000025" xsd:string |
| hasExactSynonym | "primary progressive multiple sclerosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/013-201704-kojin.pdf |
| rdfs:label | "一次性進行型MS" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000023 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000451 |
| http://nanbyodata.jp/ontology/nanbyo#1000026 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "13" xsd:string |
| dcterms:identifier | "1000026" xsd:string |
| hasExactSynonym | "secondary progressive multiple sclerosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/013-201704-kojin.pdf |
| rdfs:label | "二次性進行型MS" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000023 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000450 |
| http://nanbyodata.jp/ontology/nanbyo#1000027 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "13" xsd:string |
| dcterms:identifier | "1000027" xsd:string |
| hasExactSynonym | "Neuromyelitis Optica" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/013-201704-kojin.pdf |
| rdfs:label | "視神経脊髄炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000022 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019100 |
| http://nanbyodata.jp/ontology/nanbyo#1000028 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "13" xsd:string |
| dcterms:identifier | "1000028" xsd:string |
| hasExactSynonym | "Baló concentric sclerosis" @en |
| hasExactSynonym | "バロー同心円硬化症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/013-201704-kojin.pdf |
| rdfs:label | "Baló病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000022 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016430 |
| http://nanbyodata.jp/ontology/nanbyo#1000029 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "14" xsd:string |
| dcterms:identifier | "1000029" xsd:string |
| hasExactSynonym | "Chronic inflammatory demyelinating polyneuropathy/Multifocal motor neuropathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/014-201704-kojin.pdf |
| rdfs:label | "慢性炎症性脱髄性多発神経炎／多巣性運動ニューロパチー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000030 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "14" xsd:string |
| dcterms:identifier | "1000030" xsd:string |
| hasExactSynonym | "Chronic inflammatory demyelinating polyneuropathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/014-201704-kojin.pdf |
| rdfs:label | "慢性炎症性脱髄性多発神経炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000029 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002335 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007691 |
| http://nanbyodata.jp/ontology/nanbyo#1000031 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "14" xsd:string |
| dcterms:identifier | "1000031" xsd:string |
| hasExactSynonym | "Multifocal motor neuropathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/014-201704-kojin.pdf |
| rdfs:label | "多巣性運動ニューロパチー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000029 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018979 |
| http://nanbyodata.jp/ontology/nanbyo#1000032 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "15" xsd:string |
| dcterms:identifier | "1000032" xsd:string |
| hasExactSynonym | "Inclusion body myositis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/015-201704-kojin.pdf |
| rdfs:label | "封入体筋炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000033 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "16" xsd:string |
| dcterms:identifier | "1000033" xsd:string |
| hasExactSynonym | "Crow-Fukase syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/016-201704-kojin.pdf |
| rdfs:label | "クロウ・深瀬症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017364 |
| http://nanbyodata.jp/ontology/nanbyo#1000034 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "17" xsd:string |
| dcterms:identifier | "1000034" xsd:string |
| hasExactSynonym | "Multiple system atrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/017-201704-kojin.pdf |
| rdfs:label | "多系統萎縮症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007803 |
| http://nanbyodata.jp/ontology/nanbyo#1000035 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "17" xsd:string |
| dcterms:identifier | "1000035" xsd:string |
| hasExactSynonym | "Multiple system atrophy, cerebellar type" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/017-201704-kojin.pdf |
| rdfs:label | "MSA-C" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000034 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016418 |
| http://nanbyodata.jp/ontology/nanbyo#1000036 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "17" xsd:string |
| dcterms:identifier | "1000036" xsd:string |
| hasExactSynonym | "Multiple system atrophy, parkinsonian type" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/017-201704-kojin.pdf |
| rdfs:label | "MSA-P" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000034 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020352 |
| http://nanbyodata.jp/ontology/nanbyo#1000037 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "18" xsd:string |
| dcterms:identifier | "1000037" xsd:string |
| hasExactSynonym | "Spinocerebellar degeneration" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf |
| rdfs:label | "脊髄小脳変性症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000437 |
| http://nanbyodata.jp/ontology/nanbyo#1000038 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "18" xsd:string |
| dcterms:identifier | "1000038" xsd:string |
| hasExactSynonym | "Sporadic Spinocerebellar Degeneration" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf |
| rdfs:label | "孤発性脊髄小脳変性症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000037 |
| http://nanbyodata.jp/ontology/nanbyo#1000039 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "18" xsd:string |
| dcterms:identifier | "1000039" xsd:string |
| hasExactSynonym | "cortical cerebellar atrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf |
| rdfs:label | "皮質性小脳萎縮症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000038 |
| http://nanbyodata.jp/ontology/nanbyo#1000040 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "18" xsd:string |
| dcterms:identifier | "1000040" xsd:string |
| hasExactSynonym | "autosomal dominant spinocerebellar degeneration" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf |
| rdfs:label | "常染色体優性遺伝性脊髄小脳変性症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000037 |
| http://nanbyodata.jp/ontology/nanbyo#1000041 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "18" xsd:string |
| dcterms:identifier | "1000041" xsd:string |
| hasExactSynonym | "MJD" @en |
| hasExactSynonym | "spinocerebellar ataxia type 3" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf |
| rdfs:label | "脊髄小脳失調症３型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000040 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007182 |
| http://nanbyodata.jp/ontology/nanbyo#1000042 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "18" xsd:string |
| dcterms:identifier | "1000042" xsd:string |
| hasExactSynonym | "SCA3" @en |
| hasExactSynonym | "spinocerebellar ataxia type 6" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf |
| rdfs:label | "脊髄小脳失調症６型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000040 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007182 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008457 |
| http://nanbyodata.jp/ontology/nanbyo#1000043 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "18" xsd:string |
| dcterms:identifier | "1000043" xsd:string |
| hasExactSynonym | "DRPLA" @en |
| hasExactSynonym | "Dentatorubropallidoluysian atrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf |
| rdfs:label | "歯状核赤核淡蒼球ルイ体萎縮症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000040 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007435 |
| http://nanbyodata.jp/ontology/nanbyo#1000044 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "18" xsd:string |
| dcterms:identifier | "1000044" xsd:string |
| hasExactSynonym | "spinocerebellar ataxia type 31" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf |
| rdfs:label | "脊髄小脳失調症３１型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000040 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007296 |
| http://nanbyodata.jp/ontology/nanbyo#1000045 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "18" xsd:string |
| dcterms:identifier | "1000045" xsd:string |
| hasExactSynonym | "spinocerebellar ataxia type 1" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf |
| rdfs:label | "脊髄小脳失調症１型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000040 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008119 |
| http://nanbyodata.jp/ontology/nanbyo#1000046 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "18" xsd:string |
| dcterms:identifier | "1000046" xsd:string |
| hasExactSynonym | "spinocerebellar ataxia type 2" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf |
| rdfs:label | "脊髄小脳失調症２型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000040 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008458 |
| http://nanbyodata.jp/ontology/nanbyo#1000047 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "18" xsd:string |
| dcterms:identifier | "1000047" xsd:string |
| hasExactSynonym | "spinocerebellar ataxia type 7" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf |
| rdfs:label | "脊髄小脳失調症７型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000040 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008120 |
| http://nanbyodata.jp/ontology/nanbyo#1000048 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "18" xsd:string |
| dcterms:identifier | "1000048" xsd:string |
| hasExactSynonym | "spinocerebellar ataxia type 36" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf |
| rdfs:label | "脊髄小脳失調症３６型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000040 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013594 |
| http://nanbyodata.jp/ontology/nanbyo#1000049 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "18" xsd:string |
| dcterms:identifier | "1000049" xsd:string |
| hasExactSynonym | "autosomal dominant spinocerebellar degeneration" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf |
| rdfs:label | "常染色体劣性遺伝性脊髄小脳変性症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000037 |
| http://nanbyodata.jp/ontology/nanbyo#1000050 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "18" xsd:string |
| dcterms:identifier | "1000050" xsd:string |
| hasExactSynonym | "Ataxia with isolated vitamin E deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf |
| rdfs:label | "ビタミンE単独欠乏性失調症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000049 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010188 |
| http://nanbyodata.jp/ontology/nanbyo#1000051 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "18" xsd:string |
| dcterms:identifier | "1000051" xsd:string |
| hasExactSynonym | "AOA1" @en |
| hasExactSynonym | "Early-onset ataxia with ocular motor apraxia and hypoalbuminemia" @en |
| hasExactSynonym | "ataxia-oculomotor apraxia Type 1" @en |
| hasExactSynonym | "眼球運動失行・低アルブミン血症を伴う早発型失調症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf |
| rdfs:label | "アプラタキシン欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000049 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008842 |
| http://nanbyodata.jp/ontology/nanbyo#1000052 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "18" xsd:string |
| dcterms:identifier | "1000052" xsd:string |
| hasExactSynonym | "hereditary spastic paraplegia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf |
| rdfs:label | "痙性対麻痺" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000037 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019064 |
| http://nanbyodata.jp/ontology/nanbyo#1000053 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "18" xsd:string |
| dcterms:identifier | "1000053" xsd:string |
| hasExactSynonym | "pure hereditary spastic paraplegia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf |
| rdfs:label | "痙性対麻痺（純粋型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000052 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015149 |
| http://nanbyodata.jp/ontology/nanbyo#1000054 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "18" xsd:string |
| dcterms:identifier | "1000054" xsd:string |
| hasExactSynonym | "complex hereditary spastic paraplegia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf |
| rdfs:label | "痙性対麻痺（複合型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000052 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015150 |
| http://nanbyodata.jp/ontology/nanbyo#1000055 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000055" xsd:string |
| hasExactSynonym | "Lysosomal storage disease" @en |
| rdfs:isDefinedBy | file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl |
| rdfs:label | "ライソゾーム病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002561 |
| http://nanbyodata.jp/ontology/nanbyo#1000056 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000056" xsd:string |
| hasExactSynonym | "Gaucher disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-01-201704-kojin.pdf |
| rdfs:label | "Gaucher病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018150 |
| http://nanbyodata.jp/ontology/nanbyo#1000057 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000057" xsd:string |
| hasExactSynonym | "Gaucher disease type 1" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-01-201704-kojin.pdf |
| rdfs:label | "Gaucher病１型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000056 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009265 |
| http://nanbyodata.jp/ontology/nanbyo#1000058 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000058" xsd:string |
| hasExactSynonym | "Gaucher disease type 2" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-01-201704-kojin.pdf |
| rdfs:label | "Gaucher病２型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000056 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009266 |
| http://nanbyodata.jp/ontology/nanbyo#1000059 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000059" xsd:string |
| hasExactSynonym | "Gaucher disease type 3" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-01-201704-kojin.pdf |
| rdfs:label | "Gaucher病３型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000056 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009267 |
| http://nanbyodata.jp/ontology/nanbyo#1000060 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000060" xsd:string |
| hasExactSynonym | "Niemann-Pick disease Type A, B" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-02-201704-kojin.pdf |
| rdfs:label | "Niemann-Pick病A、B型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| http://nanbyodata.jp/ontology/nanbyo#1000061 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000061" xsd:string |
| hasExactSynonym | "Niemann-Pick disease type A" @en |
| hasExactSynonym | "Niemann-Pick disease type A/B" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-02-201704-kojin.pdf |
| rdfs:label | "Niemann-Pick病A型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000060 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009756 |
| http://nanbyodata.jp/ontology/nanbyo#1000062 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000062" xsd:string |
| hasExactSynonym | "Niemann-Pick disease type A/B" @en |
| hasExactSynonym | "Niemann-Pick disease type B" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-02-201704-kojin.pdf |
| rdfs:label | "Niemann-Pick病B型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000060 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011871 |
| http://nanbyodata.jp/ontology/nanbyo#1000063 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000063" xsd:string |
| hasExactSynonym | "Niemann-Pick disease Type C" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-03-201704-kojin.pdf |
| rdfs:label | "Niemann-Pick病C型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009757 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018982 |
| http://nanbyodata.jp/ontology/nanbyo#1000064 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000064" xsd:string |
| hasExactSynonym | "" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-03-201704-kojin.pdf |
| rdfs:label | "Niemann-Pick病C型（乳児型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000063 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002254 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008840 |
| http://nanbyodata.jp/ontology/nanbyo#1000065 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000065" xsd:string |
| hasExactSynonym | "" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-03-201704-kojin.pdf |
| rdfs:label | "Niemann-Pick病C型（成人型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000063 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002254 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008840 |
| http://nanbyodata.jp/ontology/nanbyo#1000066 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000066" xsd:string |
| hasExactSynonym | "GM1 Gangliosidosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-04-201704-kojin.pdf |
| rdfs:label | "GM1ガングリオシドーシス" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018149 |
| http://nanbyodata.jp/ontology/nanbyo#1000067 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000067" xsd:string |
| hasExactSynonym | "GM1 gangliosidosis type 1" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-04-201704-kojin.pdf |
| rdfs:label | "GM1ガングリオシドーシス（乳児型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000066 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009260 |
| http://nanbyodata.jp/ontology/nanbyo#1000068 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000068" xsd:string |
| hasExactSynonym | "GM1 gangliosidosis type 2" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-04-201704-kojin.pdf |
| rdfs:label | "GM1ガングリオシドーシス（若年型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000066 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009261 |
| http://nanbyodata.jp/ontology/nanbyo#1000069 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000069" xsd:string |
| hasExactSynonym | "GM1 gangliosidosis type 3" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-04-201704-kojin.pdf |
| rdfs:label | "GM1ガングリオシドーシス（成人型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000066 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009262 |
| http://nanbyodata.jp/ontology/nanbyo#1000070 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000070" xsd:string |
| hasExactSynonym | "GM2 Gangliosidosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-05-201704-kojin.pdf |
| rdfs:label | "GM2ガングリノシドーシス" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017720 |
| http://nanbyodata.jp/ontology/nanbyo#1000071 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000071" xsd:string |
| hasExactSynonym | "TSD" @en |
| hasExactSynonym | "Tay–Sachs disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-05-201704-kojin.pdf |
| rdfs:label | "Tay-Sachs病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000070 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010100 |
| http://nanbyodata.jp/ontology/nanbyo#1000072 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000072" xsd:string |
| hasExactSynonym | "Sandhoff disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-05-201704-kojin.pdf |
| rdfs:label | "Sandhoff病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000070 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010006 |
| http://nanbyodata.jp/ontology/nanbyo#1000073 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000073" xsd:string |
| hasExactSynonym | "AB variant" @en |
| hasExactSynonym | "GM2-gangliosidosis, AB variant" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-05-201704-kojin.pdf |
| rdfs:label | "AB型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000070 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010099 |
| http://nanbyodata.jp/ontology/nanbyo#1000074 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000074" xsd:string |
| hasExactSynonym | "Krabbe disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-06-201704-kojin.pdf |
| rdfs:label | "Krabbe病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009499 |
| http://nanbyodata.jp/ontology/nanbyo#1000075 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000075" xsd:string |
| hasExactSynonym | "Infantile Krabbe disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-06-201704-kojin.pdf |
| rdfs:label | "Krabbe病（乳児型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000074 |
| http://nanbyodata.jp/ontology/nanbyo#1000076 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000076" xsd:string |
| hasExactSynonym | "Krabbe disease, late-onset" @en |
| hasExactSynonym | "Late-infantile/juvenile Krabbe disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-06-201704-kojin.pdf |
| rdfs:label | "Krabbe病（若年型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000074 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016090 |
| http://nanbyodata.jp/ontology/nanbyo#1000077 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000077" xsd:string |
| hasExactSynonym | "Adult Krabbe disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-06-201704-kojin.pdf |
| rdfs:label | "Krabbe病（成人型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000074 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016091 |
| http://nanbyodata.jp/ontology/nanbyo#1000078 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000078" xsd:string |
| hasExactSynonym | "Metachromatic leukodystrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-07-201704-kojin.pdf |
| rdfs:label | "異染性白質ジストロフィー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009591 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018868 |
| http://nanbyodata.jp/ontology/nanbyo#1000079 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000079" xsd:string |
| hasExactSynonym | "Metachromatic leukodystrophy, late infantile form" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-07-201704-kojin.pdf |
| rdfs:label | "異染性白質ジストロフィー（後期乳児型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000078 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017729 |
| http://nanbyodata.jp/ontology/nanbyo#1000080 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000080" xsd:string |
| hasExactSynonym | "Metachromatic leukodystrophy, juvenile form" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-07-201704-kojin.pdf |
| rdfs:label | "異染性白質ジストロフィー（若年型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000078 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009591 |
| http://nanbyodata.jp/ontology/nanbyo#1000081 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000081" xsd:string |
| hasExactSynonym | "Metachromatic leukodystrophy, adult form" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-07-201704-kojin.pdf |
| rdfs:label | "異染性白質ジストロフィー（成人型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000078 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017730 |
| http://nanbyodata.jp/ontology/nanbyo#1000082 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000082" xsd:string |
| hasExactSynonym | "Saposin B deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-07-201704-kojin.pdf |
| rdfs:label | "サポシンB欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000078 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009590 |
| http://nanbyodata.jp/ontology/nanbyo#1000083 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000083" xsd:string |
| hasExactSynonym | "Multiple sulfatase deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-08-201704-kojin.pdf |
| rdfs:label | "マルチプルサルファターゼ欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010088 |
| http://nanbyodata.jp/ontology/nanbyo#1000084 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000084" xsd:string |
| hasExactSynonym | "neonatal multiple sulfatase deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-08-201704-kojin.pdf |
| rdfs:label | "マルチプルサルファターゼ欠損症(新生児型)" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000083 |
| http://nanbyodata.jp/ontology/nanbyo#1000085 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000085" xsd:string |
| hasExactSynonym | "Late-infantile multiple sulfatase deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-08-201704-kojin.pdf |
| rdfs:label | "マルチプルサルファターゼ欠損症（乳幼児型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000083 |
| http://nanbyodata.jp/ontology/nanbyo#1000086 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000086" xsd:string |
| hasExactSynonym | "Farber disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-09-201704-kojin.pdf |
| rdfs:label | "Farber病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009218 |
| http://nanbyodata.jp/ontology/nanbyo#1000087 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000087" xsd:string |
| hasExactSynonym | "type 1 FD" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-09-201704-kojin.pdf |
| rdfs:label | "Farber病（古典型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000086 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009852 |
| http://nanbyodata.jp/ontology/nanbyo#1000088 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000088" xsd:string |
| hasExactSynonym | "type 2 FD" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-09-201704-kojin.pdf |
| rdfs:label | "Farber病（中間型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000086 |
| http://nanbyodata.jp/ontology/nanbyo#1000089 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000089" xsd:string |
| hasExactSynonym | "type 3 FD" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-09-201704-kojin.pdf |
| rdfs:label | "Farber病（軽症型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000086 |
| http://nanbyodata.jp/ontology/nanbyo#1000090 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000090" xsd:string |
| hasExactSynonym | "type 4 FD" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-09-201704-kojin.pdf |
| rdfs:label | "Farber病（新生児型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000086 |
| http://nanbyodata.jp/ontology/nanbyo#1000091 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000091" xsd:string |
| hasExactSynonym | "type 5 FD" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-09-201704-kojin.pdf |
| rdfs:label | "Farber病（神経進行型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000086 |
| http://nanbyodata.jp/ontology/nanbyo#1000092 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000092" xsd:string |
| hasExactSynonym | "type 6 FD" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-09-201704-kojin.pdf |
| rdfs:label | "Farber病（サンドホッフ病合併型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000086 |
| http://nanbyodata.jp/ontology/nanbyo#1000093 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000093" xsd:string |
| hasExactSynonym | "type 7 FD" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-09-201704-kojin.pdf |
| rdfs:label | "Farber病（プロサポシン欠損型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000086 |
| http://nanbyodata.jp/ontology/nanbyo#1000094 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000094" xsd:string |
| hasExactSynonym | "Hurler-Scheie syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-10-201704-kojin.pdf |
| rdfs:label | "Hurler／Scheie症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001586 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011759 |
| http://nanbyodata.jp/ontology/nanbyo#1000095 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000095" xsd:string |
| hasExactSynonym | "Hurler syndrome" @en |
| hasExactSynonym | "Mucopolysaccharidosis type 1" @en |
| hasExactSynonym | "ムコ多糖症I型 " @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-10-201704-kojin.pdf |
| rdfs:label | "Hurler症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000094 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001586 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011758 |
| http://nanbyodata.jp/ontology/nanbyo#1000096 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000096" xsd:string |
| hasExactSynonym | "Mucopolysaccharidosis type 1" @en |
| hasExactSynonym | "Scheie syndrome" @en |
| hasExactSynonym | "ムコ多糖症I型 " @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-10-201704-kojin.pdf |
| rdfs:label | "Scheie症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000094 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001586 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011759 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011760 |
| http://nanbyodata.jp/ontology/nanbyo#1000097 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000097" xsd:string |
| hasExactSynonym | "Hurler-Scheie syndrome" @en |
| hasExactSynonym | "Mucopolysaccharidosis type 1" @en |
| hasExactSynonym | "ムコ多糖症I型 " @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-10-201704-kojin.pdf |
| rdfs:label | "Hurler／Scheie症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000094 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001586 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011759 |
| http://nanbyodata.jp/ontology/nanbyo#1000098 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000098" xsd:string |
| hasExactSynonym | "Hunter syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-11-201704-kojin.pdf |
| rdfs:label | "Hunter症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010674 |
| http://nanbyodata.jp/ontology/nanbyo#1000099 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000099" xsd:string |
| hasExactSynonym | "Hunter syndrome type A" @en |
| hasExactSynonym | "Mucopolysaccharidosis type 2" @en |
| hasExactSynonym | "ムコ多糖症II型 " @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-11-201704-kojin.pdf |
| rdfs:label | "Hunter症候群（重症型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000098 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010674 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016315 |
| http://nanbyodata.jp/ontology/nanbyo#1000100 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000100" xsd:string |
| hasExactSynonym | "Hunter syndrome type B" @en |
| hasExactSynonym | "Mucopolysaccharidosis type 2" @en |
| hasExactSynonym | "ムコ多糖症II型 " @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-11-201704-kojin.pdf |
| rdfs:label | "Hunter症候群（軽症型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000098 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010674 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016316 |
| http://nanbyodata.jp/ontology/nanbyo#1000101 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000101" xsd:string |
| hasExactSynonym | "Sanfilippo syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-12-201704-kojin.pdf |
| rdfs:label | "Sanfilippo症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018937 |
| http://nanbyodata.jp/ontology/nanbyo#1000102 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000102" xsd:string |
| hasExactSynonym | "Mucopolysaccharidosis type 3" @en |
| hasExactSynonym | "Sanfilippo syndrome type A" @en |
| hasExactSynonym | "ムコ多糖症III型 " @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-12-201704-kojin.pdf |
| rdfs:label | "Sanfilippo症候群A型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000101 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009655 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018937 |
| http://nanbyodata.jp/ontology/nanbyo#1000103 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000103" xsd:string |
| hasExactSynonym | "Mucopolysaccharidosis type 3" @en |
| hasExactSynonym | "Sanfilippo syndrome type B" @en |
| hasExactSynonym | "ムコ多糖症III型 " @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-12-201704-kojin.pdf |
| rdfs:label | "Sanfilippo症候群B型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000101 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009656 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018937 |
| http://nanbyodata.jp/ontology/nanbyo#1000104 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000104" xsd:string |
| hasExactSynonym | "Mucopolysaccharidosis type 3" @en |
| hasExactSynonym | "Sanfilippo syndrome type C" @en |
| hasExactSynonym | "ムコ多糖症III型 " @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-12-201704-kojin.pdf |
| rdfs:label | "Sanfilippo症候群C型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000101 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009657 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018937 |
| http://nanbyodata.jp/ontology/nanbyo#1000105 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000105" xsd:string |
| hasExactSynonym | "Mucopolysaccharidosis type 3" @en |
| hasExactSynonym | "Sanfilippo syndrome type D" @en |
| hasExactSynonym | "ムコ多糖症III型 " @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-12-201704-kojin.pdf |
| rdfs:label | "Sanfilippo症候群D型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000101 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009658 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018937 |
| http://nanbyodata.jp/ontology/nanbyo#1000106 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000106" xsd:string |
| hasExactSynonym | "Morquio disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-13-201704-kojin.pdf |
| rdfs:label | "Morquio症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018938 |
| http://nanbyodata.jp/ontology/nanbyo#1000107 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000107" xsd:string |
| hasExactSynonym | "Morquio disease type A" @en |
| hasExactSynonym | "Mucopolysaccharidosis type 4" @en |
| hasExactSynonym | "ムコ多糖症IV型 " @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-13-201704-kojin.pdf |
| rdfs:label | "Morquio症候群A型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000106 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009659 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018938 |
| http://nanbyodata.jp/ontology/nanbyo#1000108 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000108" xsd:string |
| hasExactSynonym | "Morquio disease type B" @en |
| hasExactSynonym | "Mucopolysaccharidosis type 4" @en |
| hasExactSynonym | "ムコ多糖症IV型 " @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-13-201704-kojin.pdf |
| rdfs:label | "Morquio症候群B型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000106 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009660 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018938 |
| http://nanbyodata.jp/ontology/nanbyo#1000109 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000109" xsd:string |
| hasExactSynonym | "Maroteaux-Lamy syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-14-201704-kojin.pdf |
| rdfs:label | "Maroteaux-Lamy症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009661 |
| http://nanbyodata.jp/ontology/nanbyo#1000110 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000110" xsd:string |
| hasExactSynonym | "Mucopolysaccharidosis type 5" @en |
| hasExactSynonym | "Mucopolysaccharidosis type 6, rapidly progressing" @en |
| hasExactSynonym | "ムコ多糖症VI型 " @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-14-201704-kojin.pdf |
| rdfs:label | "Maroteaux-Lamy症候群（重症型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000109 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011760 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017171 |
| http://nanbyodata.jp/ontology/nanbyo#1000111 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000111" xsd:string |
| hasExactSynonym | "Mucopolysaccharidosis type 5" @en |
| hasExactSynonym | "Mucopolysaccharidosis type 6, slowly progressing" @en |
| hasExactSynonym | "ムコ多糖症VI型 " @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-14-201704-kojin.pdf |
| rdfs:label | "Maroteaux-Lamy症候群（軽症型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000109 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011760 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017172 |
| http://nanbyodata.jp/ontology/nanbyo#1000112 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000112" xsd:string |
| hasExactSynonym | "Sly syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-15-201704-kojin.pdf |
| rdfs:label | "Sly病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009662 |
| http://nanbyodata.jp/ontology/nanbyo#1000113 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000113" xsd:string |
| hasExactSynonym | "" @en |
| hasExactSynonym | "Mucopolysaccharidosis type 6" @en |
| hasExactSynonym | "ムコ多糖症VII型 " @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-15-201704-kojin.pdf |
| rdfs:label | "Sly病（新生児型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000112 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002254 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008840 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009661 |
| http://nanbyodata.jp/ontology/nanbyo#1000114 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000114" xsd:string |
| hasExactSynonym | "" @en |
| hasExactSynonym | "Mucopolysaccharidosis type 6" @en |
| hasExactSynonym | "ムコ多糖症VII型 " @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-15-201704-kojin.pdf |
| rdfs:label | "Sly病（中間型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000112 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002254 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008840 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009661 |
| http://nanbyodata.jp/ontology/nanbyo#1000115 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000115" xsd:string |
| hasExactSynonym | "" @en |
| hasExactSynonym | "Mucopolysaccharidosis type 6" @en |
| hasExactSynonym | "ムコ多糖症VII型 " @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-15-201704-kojin.pdf |
| rdfs:label | "Sly病（軽症型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000112 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002254 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008840 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009661 |
| http://nanbyodata.jp/ontology/nanbyo#1000116 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000116" xsd:string |
| hasExactSynonym | "Hyaluronidase deficiency" @en |
| hasExactSynonym | "Mucopolysaccharidosis type 7" @en |
| hasExactSynonym | "ムコ多糖症IX型 " @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-16-201704-kojin.pdf |
| rdfs:label | "ヒアルロニダーゼ欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009662 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011093 |
| http://nanbyodata.jp/ontology/nanbyo#1000117 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000117" xsd:string |
| hasExactSynonym | "Sialidosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-17-201704-kojin.pdf |
| rdfs:label | "シアリドーシス" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009738 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017734 |
| http://nanbyodata.jp/ontology/nanbyo#1000118 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000118" xsd:string |
| hasExactSynonym | "Sialidosis type 1" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-17-201704-kojin.pdf |
| rdfs:label | "シアリドーシス（Ⅰ型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000117 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009738 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019346 |
| http://nanbyodata.jp/ontology/nanbyo#1000119 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000119" xsd:string |
| hasExactSynonym | "Sialidosis type 2" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-17-201704-kojin.pdf |
| rdfs:label | "シアリドーシス（Ⅱ型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000117 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009738 |
| http://nanbyodata.jp/ontology/nanbyo#1000120 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000120" xsd:string |
| hasExactSynonym | "Galactosialidosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-18-201704-kojin.pdf |
| rdfs:label | "ガラクトシアリドーシス" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009737 |
| http://nanbyodata.jp/ontology/nanbyo#1000121 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000121" xsd:string |
| hasExactSynonym | "Early-infantile galactosialidosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-18-201704-kojin.pdf |
| rdfs:label | "ガラクトシアリドーシス（新生児及び早期乳児型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000120 |
| http://nanbyodata.jp/ontology/nanbyo#1000122 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000122" xsd:string |
| hasExactSynonym | "Late infantile galactosialidosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-18-201704-kojin.pdf |
| rdfs:label | "ガラクトシアリドーシス（晩期乳児型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000120 |
| http://nanbyodata.jp/ontology/nanbyo#1000123 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000123" xsd:string |
| hasExactSynonym | "Juvenile/adult galactosialidosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-18-201704-kojin.pdf |
| rdfs:label | "ガラクトシアリドーシス（若年及び成人型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000120 |
| http://nanbyodata.jp/ontology/nanbyo#1000124 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000124" xsd:string |
| hasExactSynonym | "Mucolipidosis Type II,III" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-19-201704-kojin.pdf |
| rdfs:label | "ムコリピドーシスII型,III型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| http://nanbyodata.jp/ontology/nanbyo#1000125 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000125" xsd:string |
| hasExactSynonym | "Mucolipidosis Type II" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-19-201704-kojin.pdf |
| rdfs:label | "ムコリピドーシスII型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000124 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009650 |
| http://nanbyodata.jp/ontology/nanbyo#1000126 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000126" xsd:string |
| hasExactSynonym | "Mucolipidosis Type III" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-19-201704-kojin.pdf |
| rdfs:label | "ムコリピドーシスIII型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000124 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009651 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018931 |
| http://nanbyodata.jp/ontology/nanbyo#1000127 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000127" xsd:string |
| hasExactSynonym | "Alpha-mannosidosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-20-201704-kojin.pdf |
| rdfs:label | "α-マンノシドーシス" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009561 |
| http://nanbyodata.jp/ontology/nanbyo#1000128 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000128" xsd:string |
| hasExactSynonym | "Alpha-mannosidosis, infantile form" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-20-201704-kojin.pdf |
| rdfs:label | "α-マンノシドーシス（乳児型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000127 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017732 |
| http://nanbyodata.jp/ontology/nanbyo#1000129 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000129" xsd:string |
| hasExactSynonym | "Alpha-mannosidosis, adult form" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-20-201704-kojin.pdf |
| rdfs:label | "α-マンノシドーシス（若年成人型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000127 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017733 |
| http://nanbyodata.jp/ontology/nanbyo#1000130 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000130" xsd:string |
| hasExactSynonym | "Beta-mannosidosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-21-201704-kojin.pdf |
| rdfs:label | "β-マンノシドーシス" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009562 |
| http://nanbyodata.jp/ontology/nanbyo#1000131 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000131" xsd:string |
| hasExactSynonym | "Fucosidosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-22-201704-kojin.pdf |
| rdfs:label | "フコシドーシス" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009254 |
| http://nanbyodata.jp/ontology/nanbyo#1000132 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000132" xsd:string |
| hasExactSynonym | "Fucosidosis type 1" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-22-201704-kojin.pdf |
| rdfs:label | "フコシドーシス（乳児型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000131 |
| http://nanbyodata.jp/ontology/nanbyo#1000133 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000133" xsd:string |
| hasExactSynonym | "Fucosidosis type 2" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-22-201704-kojin.pdf |
| rdfs:label | "フコシドーシス（軽症型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000131 |
| http://nanbyodata.jp/ontology/nanbyo#1000134 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000134" xsd:string |
| hasExactSynonym | "Aspartylglucosaminuria" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-23-201704-kojin.pdf |
| rdfs:label | "アスパルチルグルコサミン尿症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008830 |
| http://nanbyodata.jp/ontology/nanbyo#1000135 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000135" xsd:string |
| hasExactSynonym | "Schindler disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-24-201704-kojin.pdf |
| rdfs:label | "Schindler病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017779 |
| http://nanbyodata.jp/ontology/nanbyo#1000136 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000136" xsd:string |
| hasExactSynonym | "Schindler disease type 1" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-24-201704-kojin.pdf |
| rdfs:label | "Schindler病I型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000135 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012221 |
| http://nanbyodata.jp/ontology/nanbyo#1000137 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000137" xsd:string |
| hasExactSynonym | "Schindler disease type 2" @en |
| hasExactSynonym | "神崎病" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-24-201704-kojin.pdf |
| rdfs:label | "Schindler病II型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000135 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012222 |
| http://nanbyodata.jp/ontology/nanbyo#1000138 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000138" xsd:string |
| hasExactSynonym | "Schindler disease type 3" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-24-201704-kojin.pdf |
| rdfs:label | "Schindler病III型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000135 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012221 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019264 |
| http://nanbyodata.jp/ontology/nanbyo#1000139 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000139" xsd:string |
| hasExactSynonym | "Pompe disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-25-201704-kojin.pdf |
| rdfs:label | "Pompe病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009290 |
| http://nanbyodata.jp/ontology/nanbyo#1000140 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000140" xsd:string |
| hasExactSynonym | "Classic infantile-onset Pompe disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-25-201704-kojin.pdf |
| rdfs:label | "Pompe病（乳児型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000139 |
| http://nanbyodata.jp/ontology/nanbyo#1000141 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000141" xsd:string |
| hasExactSynonym | "Non-classic infantile-onset Pompe disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-25-201704-kojin.pdf |
| rdfs:label | "Pompe病（小児型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000139 |
| http://nanbyodata.jp/ontology/nanbyo#1000142 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000142" xsd:string |
| hasExactSynonym | "Late-onset Pompe disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-25-201704-kojin.pdf |
| rdfs:label | "Pompe病（成人型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000139 |
| http://nanbyodata.jp/ontology/nanbyo#1000143 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000143" xsd:string |
| hasExactSynonym | "Lysosomal acid lipase deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-26-201704-kojin.pdf |
| rdfs:label | "酸性リパーゼ欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010204 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019148 |
| http://nanbyodata.jp/ontology/nanbyo#1000144 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000144" xsd:string |
| hasExactSynonym | "Wolman disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-26-201704-kojin.pdf |
| rdfs:label | "ウォルマン病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000143 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010204 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019148 |
| http://nanbyodata.jp/ontology/nanbyo#1000145 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000145" xsd:string |
| hasExactSynonym | "Cholesterol ester storage disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-26-201704-kojin.pdf |
| rdfs:label | "コレステロールエステル蓄膿症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000143 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019149 |
| http://nanbyodata.jp/ontology/nanbyo#1000146 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000146" xsd:string |
| hasExactSynonym | "Danon disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-27-201704-kojin.pdf |
| rdfs:label | "Danon病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010281 |
| http://nanbyodata.jp/ontology/nanbyo#1000147 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000147" xsd:string |
| hasExactSynonym | "Free sialic acid storage disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-28-201704-kojin.pdf |
| rdfs:label | "遊離シアル酸蓄積症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019366 |
| http://nanbyodata.jp/ontology/nanbyo#1000148 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000148" xsd:string |
| hasExactSynonym | "Free sialic acid storage disease, infantile form" @en |
| hasExactSynonym | "ISSD" @en |
| hasExactSynonym | "infantile sialic acid storage disease" @en |
| hasExactSynonym | "遊離シアル酸蓄積症（重症型）" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-28-201704-kojin.pdf |
| rdfs:label | "遊離シアル酸蓄積症（乳児型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000147 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010027 |
| http://nanbyodata.jp/ontology/nanbyo#1000149 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000149" xsd:string |
| hasExactSynonym | "intermediate severe Salla disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-28-201704-kojin.pdf |
| rdfs:label | "遊離シアル酸蓄積症（中間型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000147 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017737 |
| http://nanbyodata.jp/ontology/nanbyo#1000150 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000150" xsd:string |
| hasExactSynonym | "Salla disaese" @en |
| hasExactSynonym | "遊離シアル酸蓄積症（軽症型）" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-28-201704-kojin.pdf |
| rdfs:label | "サラ病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000147 |
| http://nanbyodata.jp/ontology/nanbyo#1000151 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000151" xsd:string |
| hasExactSynonym | "Neuronal Ceroid Lipofuscinosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-29-201704-kojin.pdf |
| rdfs:label | "セロイドリポフスチノーシス" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016295 |
| http://nanbyodata.jp/ontology/nanbyo#1000152 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000152" xsd:string |
| hasExactSynonym | "Congenital neuronal ceroid lipofuscinosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-29-201704-kojin.pdf |
| rdfs:label | "セロイドリポフスチノーシス（先天型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000151 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008956 |
| http://nanbyodata.jp/ontology/nanbyo#1000153 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000153" xsd:string |
| hasExactSynonym | "Infantile neuronal ceroid lipofuscinosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-29-201704-kojin.pdf |
| rdfs:label | "セロイドリポフスチノーシス（乳児型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000151 |
| http://nanbyodata.jp/ontology/nanbyo#1000154 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000154" xsd:string |
| hasExactSynonym | "Late infantile neuronal ceroid lipofuscinosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-29-201704-kojin.pdf |
| rdfs:label | "セロイドリポフスチノーシス（遅発乳児型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000151 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008769 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015674 |
| http://nanbyodata.jp/ontology/nanbyo#1000155 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000155" xsd:string |
| hasExactSynonym | "Juvenile neuronal ceroid lipofuscinosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-29-201704-kojin.pdf |
| rdfs:label | "セロイドリポフスチノーシス（若年型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000151 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008767 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019262 |
| http://nanbyodata.jp/ontology/nanbyo#1000156 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000156" xsd:string |
| hasExactSynonym | "Adult neuronal ceroid lipofuscinosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-29-201704-kojin.pdf |
| rdfs:label | "セロイドリポフスチノーシス（成人型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000151 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019260 |
| http://nanbyodata.jp/ontology/nanbyo#1000157 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000157" xsd:string |
| hasExactSynonym | "Atypical neuronal ceroid-lipofuscinosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-29-201704-kojin.pdf |
| rdfs:label | "セロイドリポフスチノーシス（非定型型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000151 |
| http://nanbyodata.jp/ontology/nanbyo#1000158 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000158" xsd:string |
| hasExactSynonym | "Fabry disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-30-201704-kojin.pdf |
| rdfs:label | "Fabry病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010526 |
| http://nanbyodata.jp/ontology/nanbyo#1000159 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000159" xsd:string |
| hasExactSynonym | "classic Fabry disease" @en |
| hasExactSynonym | "type 1 Fabry disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-30-201704-kojin.pdf |
| rdfs:label | "Fabry病（古典型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000158 |
| http://nanbyodata.jp/ontology/nanbyo#1000160 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000160" xsd:string |
| hasExactSynonym | "late onset Fabry disease" @en |
| hasExactSynonym | "type 2 Fabry disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-30-201704-kojin.pdf |
| rdfs:label | "Fabry病（亜型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000158 |
| http://nanbyodata.jp/ontology/nanbyo#1000161 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000161" xsd:string |
| hasExactSynonym | "heterozygous Fabry disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-30-201704-kojin.pdf |
| rdfs:label | "Fabry病（顕性ヘテロ接合体）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000158 |
| http://nanbyodata.jp/ontology/nanbyo#1000162 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000162" xsd:string |
| hasExactSynonym | "Cystinosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-31-201704-kojin.pdf |
| rdfs:label | "シスチン症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016239 |
| http://nanbyodata.jp/ontology/nanbyo#1000163 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000163" xsd:string |
| hasExactSynonym | "Nephropathic infantile cystinosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-31-201704-kojin.pdf |
| rdfs:label | "シスチン症（腎型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000162 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018467 |
| http://nanbyodata.jp/ontology/nanbyo#1000164 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000164" xsd:string |
| hasExactSynonym | "Juvenile nephropathic cystinosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-31-201704-kojin.pdf |
| rdfs:label | "シスチン症（中間型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000162 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009066 |
| http://nanbyodata.jp/ontology/nanbyo#1000165 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "1000165" xsd:string |
| hasExactSynonym | "Ocular cystinosis" @en |
| hasExactSynonym | "シスチン症（眼型）" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/019-31-201704-kojin.pdf |
| rdfs:label | "シスチン症（非腎型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000162 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009064 |
| http://nanbyodata.jp/ontology/nanbyo#1000166 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "20" xsd:string |
| dcterms:identifier | "1000166" xsd:string |
| hasExactSynonym | "Adrenoleukodystrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/020-201704-kojin.pdf |
| rdfs:label | "副腎白質ジストロフィー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010247 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018544 |
| http://nanbyodata.jp/ontology/nanbyo#1000167 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "20" xsd:string |
| dcterms:identifier | "1000167" xsd:string |
| hasExactSynonym | "Childhood X-linked Adrenoleukodystrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/020-201704-kojin.pdf |
| rdfs:label | "副腎白質ジストロフィー（小児大脳型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000166 |
| http://nanbyodata.jp/ontology/nanbyo#1000168 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "20" xsd:string |
| dcterms:identifier | "1000168" xsd:string |
| hasExactSynonym | "Adolescent-onset X-linked Adrenoleukodystrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/020-201704-kojin.pdf |
| rdfs:label | "副腎白質ジストロフィー（思春期大脳型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000166 |
| http://nanbyodata.jp/ontology/nanbyo#1000169 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "20" xsd:string |
| dcterms:identifier | "1000169" xsd:string |
| hasExactSynonym | "AMN" @ja |
| hasExactSynonym | "adrenomyeloneuropathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/020-201704-kojin.pdf |
| rdfs:label | "副腎白質ジストロフィー（副腎脊髄ニューロパチー）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000166 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010247 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015339 |
| http://nanbyodata.jp/ontology/nanbyo#1000170 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "20" xsd:string |
| dcterms:identifier | "1000170" xsd:string |
| hasExactSynonym | "Adult-onset adrenoleukodystrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/020-201704-kojin.pdf |
| rdfs:label | "副腎白質ジストロフィー（成人大脳型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000166 |
| http://nanbyodata.jp/ontology/nanbyo#1000171 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "20" xsd:string |
| dcterms:identifier | "1000171" xsd:string |
| hasExactSynonym | "Atypical X-linked adult adrenoleukodystrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/020-201704-kojin.pdf |
| rdfs:label | "副腎白質ジストロフィー（小脳・脳幹型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000166 |
| http://nanbyodata.jp/ontology/nanbyo#1000172 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "20" xsd:string |
| dcterms:identifier | "1000172" xsd:string |
| hasExactSynonym | "Addison's Disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/020-201704-kojin.pdf |
| rdfs:label | "副腎白質ジストロフィー（アジソン型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000166 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009410 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015129 |
| http://nanbyodata.jp/ontology/nanbyo#1000173 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "20" xsd:string |
| dcterms:identifier | "1000173" xsd:string |
| hasExactSynonym | "female adrenoleukodystrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/020-201704-kojin.pdf |
| rdfs:label | "副腎白質ジストロフィー（女性発症者）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000166 |
| http://nanbyodata.jp/ontology/nanbyo#1000174 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "21" xsd:string |
| dcterms:identifier | "1000174" xsd:string |
| hasExactSynonym | "Mitochondrial disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/021-201704-kojin.pdf |
| rdfs:label | "ミトコンドリア病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0004069 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0044970 |
| http://nanbyodata.jp/ontology/nanbyo#1000175 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "21" xsd:string |
| dcterms:identifier | "1000175" xsd:string |
| hasExactSynonym | "chronic progressive external ophthalmoplegia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/021-201704-kojin.pdf |
| rdfs:label | "慢性進行性外眼筋麻痺症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000174 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005181 |
| http://nanbyodata.jp/ontology/nanbyo#1000176 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "21" xsd:string |
| dcterms:identifier | "1000176" xsd:string |
| hasExactSynonym | "Leigh syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/021-201704-kojin.pdf |
| rdfs:label | "リー脳症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000174 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009723 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018859 |
| http://nanbyodata.jp/ontology/nanbyo#1000177 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "21" xsd:string |
| dcterms:identifier | "1000177" xsd:string |
| hasExactSynonym | "MELAS" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/021-201704-kojin.pdf |
| rdfs:label | "ミトコンドリア脳筋症・乳酸アシドーシス・脳卒中様発作症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000174 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010789 |
| http://nanbyodata.jp/ontology/nanbyo#1000178 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "21" xsd:string |
| dcterms:identifier | "1000178" xsd:string |
| hasExactSynonym | "MERRF" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/021-201704-kojin.pdf |
| rdfs:label | "ミトコンドリア異常を伴うミオクローヌスてんかん" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000174 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010790 |
| http://nanbyodata.jp/ontology/nanbyo#1000179 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "21" xsd:string |
| dcterms:identifier | "1000179" xsd:string |
| hasExactSynonym | "Leber hereditary optic neuropathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/021-201704-kojin.pdf |
| rdfs:label | "レーバー病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000174 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010788 |
| http://nanbyodata.jp/ontology/nanbyo#1000180 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "21" xsd:string |
| dcterms:identifier | "1000180" xsd:string |
| hasExactSynonym | "" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/021-201704-kojin.pdf |
| rdfs:label | "生化学的異常が明らかになったミトコンドリア病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000174 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002254 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008840 |
| http://nanbyodata.jp/ontology/nanbyo#1000181 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "21" xsd:string |
| dcterms:identifier | "1000181" xsd:string |
| hasExactSynonym | "Mitochondrial complex I deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/021-201704-kojin.pdf |
| rdfs:label | "複合体Ⅰ欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000180 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009640 |
| http://nanbyodata.jp/ontology/nanbyo#1000182 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "21" xsd:string |
| dcterms:identifier | "1000182" xsd:string |
| hasExactSynonym | "Mitochondrial complex II deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/021-201704-kojin.pdf |
| rdfs:label | "複合体Ⅱ欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000180 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009641 |
| http://nanbyodata.jp/ontology/nanbyo#1000184 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "22" xsd:string |
| dcterms:identifier | "1000184" xsd:string |
| hasExactSynonym | "Moyamoya disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/022-201704-kojin.pdf |
| rdfs:label | "もやもや病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009649 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016820 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018792 |
| http://nanbyodata.jp/ontology/nanbyo#1000185 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "22" xsd:string |
| dcterms:identifier | "1000185" xsd:string |
| hasExactSynonym | "bilateral moyamoya disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/022-201704-kojin.pdf |
| rdfs:label | "もやもや病（両側型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000184 |
| http://nanbyodata.jp/ontology/nanbyo#1000186 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "22" xsd:string |
| dcterms:identifier | "1000186" xsd:string |
| hasExactSynonym | "unilateral moyamoya disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/022-201704-kojin.pdf |
| rdfs:label | "もやもや病（片側型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000184 |
| http://nanbyodata.jp/ontology/nanbyo#1000187 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "23" xsd:string |
| dcterms:identifier | "1000187" xsd:string |
| hasExactSynonym | "Prion disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/023-201704-kojin.pdf |
| rdfs:label | "プリオン病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005429 |
| http://nanbyodata.jp/ontology/nanbyo#1000188 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "23" xsd:string |
| dcterms:identifier | "1000188" xsd:string |
| hasExactSynonym | "Sporadic Creutzfeldt-Jakob disease" @en |
| hasExactSynonym | "sCJD" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/023-201704-kojin.pdf |
| rdfs:label | "孤発性クロイツフェルト・ヤコブ病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000187 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016079 |
| http://nanbyodata.jp/ontology/nanbyo#1000189 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "23" xsd:string |
| dcterms:identifier | "1000189" xsd:string |
| hasExactSynonym | "Genetic Prion Diseases" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/023-201704-kojin.pdf |
| rdfs:label | "遺伝性プリオン病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000187 |
| http://nanbyodata.jp/ontology/nanbyo#1000190 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "23" xsd:string |
| dcterms:identifier | "1000190" xsd:string |
| hasExactSynonym | "Familial Creutzfeldt-Jakob Disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/023-201704-kojin.pdf |
| rdfs:label | "家族性CJD" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000189 |
| http://nanbyodata.jp/ontology/nanbyo#1000191 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "23" xsd:string |
| dcterms:identifier | "1000191" xsd:string |
| hasExactSynonym | "GSS" @en |
| hasExactSynonym | "Gerstmann-Straussler-Scheinker syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/023-201704-kojin.pdf |
| rdfs:label | "ゲルストマン・ストロイスラー・シャインカー病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000189 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007656 |
| http://nanbyodata.jp/ontology/nanbyo#1000192 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "23" xsd:string |
| dcterms:identifier | "1000192" xsd:string |
| hasExactSynonym | "FFI" @en |
| hasExactSynonym | "fatal familial insomnia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/023-201704-kojin.pdf |
| rdfs:label | "致死性家族性不眠症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000189 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010808 |
| http://nanbyodata.jp/ontology/nanbyo#1000193 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "23" xsd:string |
| dcterms:identifier | "1000193" xsd:string |
| hasExactSynonym | "Acquired Creutzfeldt-Jakob disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/023-201704-kojin.pdf |
| rdfs:label | "獲得性クロイツフェルト・ヤコブ病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000187 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018686 |
| http://nanbyodata.jp/ontology/nanbyo#1000194 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "23" xsd:string |
| dcterms:identifier | "1000194" xsd:string |
| hasExactSynonym | "Iatrogenic Creutzfeldt-Jakob disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/023-201704-kojin.pdf |
| rdfs:label | "医原性クロイツフェルト・ヤコブ病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000193 |
| http://nanbyodata.jp/ontology/nanbyo#1000195 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "23" xsd:string |
| dcterms:identifier | "1000195" xsd:string |
| hasExactSynonym | "vCJD" @en |
| hasExactSynonym | "variant Creutzfeldt-Jakob disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/023-201704-kojin.pdf |
| rdfs:label | "変異型クロイツフェルトヤコブ病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000193 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007012 |
| http://nanbyodata.jp/ontology/nanbyo#1000196 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "24" xsd:string |
| dcterms:identifier | "1000196" xsd:string |
| hasExactSynonym | "Subacute sclerosing panencephalitis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/024-201804-kojin.pdf |
| rdfs:label | "亜急性硬化性全脳炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009835 |
| http://nanbyodata.jp/ontology/nanbyo#1000197 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "24" xsd:string |
| dcterms:identifier | "1000197" xsd:string |
| hasExactSynonym | "" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/024-201804-kojin.pdf |
| rdfs:label | "亜急性硬化性全脳炎（典型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000196 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002254 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008840 |
| http://nanbyodata.jp/ontology/nanbyo#1000202 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "24" xsd:string |
| dcterms:identifier | "1000202" xsd:string |
| hasExactSynonym | "Atypical subacute sclerosing panencephalitis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/024-201804-kojin.pdf |
| rdfs:label | "亜急性硬化性全脳炎（非典型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000196 |
| http://nanbyodata.jp/ontology/nanbyo#1000204 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "24" xsd:string |
| dcterms:identifier | "1000204" xsd:string |
| hasExactSynonym | "" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/024-201804-kojin.pdf |
| rdfs:label | "Jabbour 分類の I 期が 遷延する例" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000202 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002254 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008840 |
| http://nanbyodata.jp/ontology/nanbyo#1000206 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "25" xsd:string |
| dcterms:identifier | "1000206" xsd:string |
| hasExactSynonym | "Progressive multifocal leukoencephalopathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/025-201704-kojin.pdf |
| rdfs:label | "進行性多巣性白質脳症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016318 |
| http://nanbyodata.jp/ontology/nanbyo#1000207 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "26" xsd:string |
| dcterms:identifier | "1000207" xsd:string |
| hasExactSynonym | "HTLV-1-associated Myelopathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/026-201704-kojin.pdf |
| rdfs:label | "HTLV-1関連脊髄症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000208 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "27" xsd:string |
| dcterms:identifier | "1000208" xsd:string |
| hasExactSynonym | "Idiopathic basal ganglia calcification" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/027-201704-kojin.pdf |
| rdfs:label | "特発性基底核石灰化症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000209 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "27" xsd:string |
| dcterms:identifier | "1000209" xsd:string |
| hasExactSynonym | "Idiopathic basal ganglia calcification" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/027-201704-kojin.pdf |
| rdfs:label | "特発性基底核石灰化症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000208 |
| http://nanbyodata.jp/ontology/nanbyo#1000210 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "27" xsd:string |
| dcterms:identifier | "1000210" xsd:string |
| hasExactSynonym | "Familial idiopathic basal ganglia calcification" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/027-201704-kojin.pdf |
| rdfs:label | "家族性特発性基底核石灰化症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000208 |
| http://nanbyodata.jp/ontology/nanbyo#1000211 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "28" xsd:string |
| dcterms:identifier | "1000211" xsd:string |
| hasExactSynonym | "Systemic amyloidosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/028-201704-kojin.pdf |
| rdfs:label | "全身性アミロイドーシス" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017816 |
| http://nanbyodata.jp/ontology/nanbyo#1000212 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "28" xsd:string |
| dcterms:identifier | "1000212" xsd:string |
| hasExactSynonym | "" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/028-201704-kojin.pdf |
| rdfs:label | "免疫グロブリン性アミロイドーシス;老人性トランスサイレチン型(TTR)アミロイドーシス;反応性AAアミロイドーシス" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000211 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002254 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008840 |
| http://nanbyodata.jp/ontology/nanbyo#1000213 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "28" xsd:string |
| dcterms:identifier | "1000213" xsd:string |
| hasExactSynonym | "AL amyloidosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/028-201704-kojin.pdf |
| rdfs:label | "免疫グロブリン性アミロイドーシス" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000212 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009693 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019438 |
| http://nanbyodata.jp/ontology/nanbyo#1000214 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "28" xsd:string |
| dcterms:identifier | "1000214" xsd:string |
| hasExactSynonym | "SSA" @en |
| hasExactSynonym | "senile systemic amyloidosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/028-201704-kojin.pdf |
| rdfs:label | "老人性トランスサイレチン型アミロイドーシス" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000212 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018018 |
| http://nanbyodata.jp/ontology/nanbyo#1000215 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "28" xsd:string |
| dcterms:identifier | "1000215" xsd:string |
| hasExactSynonym | "Reactive AA amyloidosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/028-201704-kojin.pdf |
| rdfs:label | "反応性AAアミロイドーシス" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000212 |
| http://nanbyodata.jp/ontology/nanbyo#1000216 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "28" xsd:string |
| dcterms:identifier | "1000216" xsd:string |
| hasExactSynonym | "Familial amyloid polyneuropathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/028-201704-kojin.pdf |
| rdfs:label | "家族性アミロイドニューロパチー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000211 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007100 |
| http://nanbyodata.jp/ontology/nanbyo#1000217 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "29" xsd:string |
| dcterms:identifier | "1000217" xsd:string |
| hasExactSynonym | "Ullrich disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/029-201704-kojin.pdf |
| rdfs:label | "ウルリッヒ病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000355 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009681 |
| http://nanbyodata.jp/ontology/nanbyo#1000218 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "30" xsd:string |
| dcterms:identifier | "1000218" xsd:string |
| hasExactSynonym | "Distal myopathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/030-201704-kojin.pdf |
| rdfs:label | "遠位型ミオパチー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018949 |
| http://nanbyodata.jp/ontology/nanbyo#1000219 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "30" xsd:string |
| dcterms:identifier | "1000219" xsd:string |
| hasExactSynonym | "Miyoshi myopathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/030-201704-kojin.pdf |
| rdfs:label | "三好型ミオパチー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000218 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009685 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0024545 |
| http://nanbyodata.jp/ontology/nanbyo#1000220 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "30" xsd:string |
| dcterms:identifier | "1000220" xsd:string |
| hasExactSynonym | "Distal myopathy with rimmed vacuoles" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/030-201704-kojin.pdf |
| rdfs:label | "縁取り空胞を伴う遠位型ミオパチー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000218 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007827 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011603 |
| http://nanbyodata.jp/ontology/nanbyo#1000221 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "30" xsd:string |
| dcterms:identifier | "1000221" xsd:string |
| hasExactSynonym | "Oculopharyngodistal myopathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/030-201704-kojin.pdf |
| rdfs:label | "眼咽頭遠位型ミオパチー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000218 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008117 |
| http://nanbyodata.jp/ontology/nanbyo#1000222 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "31" xsd:string |
| dcterms:identifier | "1000222" xsd:string |
| hasExactSynonym | "Bethlem myopathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/031-201704-kojin.pdf |
| rdfs:label | "ベスレムミオパチー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008029 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0024530 |
| http://nanbyodata.jp/ontology/nanbyo#1000223 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "32" xsd:string |
| dcterms:identifier | "1000223" xsd:string |
| hasExactSynonym | "Autophagic vacuolar myopathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/032-201704-kojin.pdf |
| rdfs:label | "自己貪食空胞性ミオパチー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000224 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "32" xsd:string |
| dcterms:identifier | "1000224" xsd:string |
| hasExactSynonym | "Danon disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/032-201704-kojin.pdf |
| rdfs:label | "Danon病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000223 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010281 |
| http://nanbyodata.jp/ontology/nanbyo#1000225 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "32" xsd:string |
| dcterms:identifier | "1000225" xsd:string |
| hasExactSynonym | "X-linked Myopathy with excessive autophagy" @en |
| hasExactSynonym | "XMEA" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/032-201704-kojin.pdf |
| rdfs:label | "過剰自己貪食を伴うＸ連鎖性ミオパチー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000223 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010684 |
| http://nanbyodata.jp/ontology/nanbyo#1000226 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "33" xsd:string |
| dcterms:identifier | "1000226" xsd:string |
| hasExactSynonym | "Schwartz-Jampel syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/033-201704-kojin.pdf |
| rdfs:label | "シュワルツ・ヤンペル症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009717 |
| http://nanbyodata.jp/ontology/nanbyo#1000227 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "34" xsd:string |
| dcterms:identifier | "1000227" xsd:string |
| hasExactSynonym | "Neurofibromatosis" @en |
| rdfs:isDefinedBy | file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl |
| rdfs:label | "神経線維腫症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018975 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0021061 |
| http://nanbyodata.jp/ontology/nanbyo#1000228 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "34" xsd:string |
| dcterms:identifier | "1000228" xsd:string |
| hasExactSynonym | "Neurofibromatosis Type 1" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/034-01-201704-kojin.pdf |
| rdfs:label | "神経線維腫症Ⅰ型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000227 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018975 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0021061 |
| http://nanbyodata.jp/ontology/nanbyo#1000229 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "34" xsd:string |
| dcterms:identifier | "1000229" xsd:string |
| hasExactSynonym | "Neurofibromatosis Type 2" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/034-02-201704-kojin.pdf |
| rdfs:label | "神経線維腫症Ⅱ型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000227 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007039 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0021061 |
| http://nanbyodata.jp/ontology/nanbyo#1000230 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "35" xsd:string |
| dcterms:identifier | "1000230" xsd:string |
| hasExactSynonym | "Pemphigus" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/035-201704-kojin.pdf |
| rdfs:label | "天疱瘡" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0006594 |
| http://nanbyodata.jp/ontology/nanbyo#1000232 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "35" xsd:string |
| dcterms:identifier | "1000232" xsd:string |
| hasExactSynonym | "pemphigus foliaceus" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/035-201704-kojin.pdf |
| rdfs:label | "天疱瘡（落葉状）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000230 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019324 |
| http://nanbyodata.jp/ontology/nanbyo#1000233 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "35" xsd:string |
| dcterms:identifier | "1000233" xsd:string |
| hasExactSynonym | "Paraneoplastic pemphigus" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/035-201704-kojin.pdf |
| rdfs:label | "天疱瘡（腫瘍随伴性）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000230 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018974 |
| http://nanbyodata.jp/ontology/nanbyo#1000234 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "35" xsd:string |
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| hasExactSynonym | "pemphigus vegetans" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/035-201704-kojin.pdf |
| rdfs:label | "天疱瘡（増殖性）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000230 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019322 |
| http://nanbyodata.jp/ontology/nanbyo#1000235 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "35" xsd:string |
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| hasExactSynonym | "Pemphigus erythematosus" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/035-201704-kojin.pdf |
| rdfs:label | "天疱瘡（紅斑性）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000230 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019323 |
| http://nanbyodata.jp/ontology/nanbyo#1000236 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "36" xsd:string |
| dcterms:identifier | "1000236" xsd:string |
| hasExactSynonym | "Epidermolysis bullosa" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/036-201704-kojin.pdf |
| rdfs:label | "表皮水疱症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0006541 |
| http://nanbyodata.jp/ontology/nanbyo#1000237 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "36" xsd:string |
| dcterms:identifier | "1000237" xsd:string |
| hasExactSynonym | "Epidermolysis bullosa simplex" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/036-201704-kojin.pdf |
| rdfs:label | "表皮水疱症（単純型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000236 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017610 |
| http://nanbyodata.jp/ontology/nanbyo#1000238 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "36" xsd:string |
| dcterms:identifier | "1000238" xsd:string |
| hasExactSynonym | "Junctional epidermolysis bullosa" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/036-201704-kojin.pdf |
| rdfs:label | "表皮水疱症（接合部型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000236 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017612 |
| http://nanbyodata.jp/ontology/nanbyo#1000239 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "36" xsd:string |
| dcterms:identifier | "1000239" xsd:string |
| hasExactSynonym | "Dominant dystrophic epidermolysis bullosa" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/036-201704-kojin.pdf |
| rdfs:label | "表皮水疱症（優性栄養障害型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000236 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007549 |
| http://nanbyodata.jp/ontology/nanbyo#1000240 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "36" xsd:string |
| dcterms:identifier | "1000240" xsd:string |
| hasExactSynonym | "Recessive dystrophic epidermolysis bullosa" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/036-201704-kojin.pdf |
| rdfs:label | "表皮水疱症（劣性栄養障害型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000236 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009179 |
| http://nanbyodata.jp/ontology/nanbyo#1000241 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "36" xsd:string |
| dcterms:identifier | "1000241" xsd:string |
| hasExactSynonym | "Kindler syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/036-201704-kojin.pdf |
| rdfs:label | "表皮水疱症（キンドラー症候群）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000236 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008260 |
| http://nanbyodata.jp/ontology/nanbyo#1000242 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "37" xsd:string |
| dcterms:identifier | "1000242" xsd:string |
| hasExactSynonym | "Generalized Pustular Psoriasis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/037-201704-kojin.pdf |
| rdfs:label | "膿疱性乾癬（汎発型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013626 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016597 |
| http://nanbyodata.jp/ontology/nanbyo#1000243 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "37" xsd:string |
| dcterms:identifier | "1000243" xsd:string |
| hasExactSynonym | "Acute generalized pustular psoriasis" @en |
| hasExactSynonym | "Acute generalized pustular psoriasis, von Zumbusch type" @en |
| hasExactSynonym | "von Zumbusch 型" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/037-201704-kojin.pdf |
| rdfs:label | "急性汎発性膿疱性乾癬" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000242 |
| http://nanbyodata.jp/ontology/nanbyo#1000244 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "37" xsd:string |
| dcterms:identifier | "1000244" xsd:string |
| hasExactSynonym | "Infantile generalized pustular psoriasis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/037-201704-kojin.pdf |
| rdfs:label | "小児汎発性膿疱性乾癬" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000242 |
| http://nanbyodata.jp/ontology/nanbyo#1000245 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "37" xsd:string |
| dcterms:identifier | "1000245" xsd:string |
| hasExactSynonym | "Impetigo Herpesformis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/037-201704-kojin.pdf |
| rdfs:label | "疱疹状膿痂疹" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000242 |
| http://nanbyodata.jp/ontology/nanbyo#1000246 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "37" xsd:string |
| dcterms:identifier | "1000246" xsd:string |
| hasExactSynonym | "Acrodermatitis Continua of Hallopeau" @en |
| hasExactSynonym | "Generalized Acrodermatitis Continua of Hallopeau" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/037-201704-kojin.pdf |
| rdfs:label | "稽留性肢端皮膚炎の汎発化" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000242 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013626 |
| http://nanbyodata.jp/ontology/nanbyo#1000247 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "38" xsd:string |
| dcterms:identifier | "1000247" xsd:string |
| hasExactSynonym | "Stevens-Johnson syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/038-201804-kojin.pdf |
| rdfs:label | "スティーヴンス・ジョンソン症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018229 |
| http://nanbyodata.jp/ontology/nanbyo#1000248 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "39" xsd:string |
| dcterms:identifier | "1000248" xsd:string |
| hasExactSynonym | "Toxic epidermal necrolysis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/039-201704-kojin.pdf |
| rdfs:label | "中毒性表皮壊死症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019810 |
| http://nanbyodata.jp/ontology/nanbyo#1000249 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "39" xsd:string |
| dcterms:identifier | "1000249" xsd:string |
| hasExactSynonym | "TEN without maclues" @en |
| hasExactSynonym | "toxic epidermal necrolysis with spots" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/039-201704-kojin.pdf |
| rdfs:label | "中毒性表皮壊死症（SJS進展型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000248 |
| http://nanbyodata.jp/ontology/nanbyo#1000250 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "39" xsd:string |
| dcterms:identifier | "1000250" xsd:string |
| hasExactSynonym | "TEN on large erythema " @en |
| hasExactSynonym | "toxic epidermal necrolysis without spots" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/039-201704-kojin.pdf |
| rdfs:label | "中毒性表皮壊死症（びまん性紅班進展型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000248 |
| http://nanbyodata.jp/ontology/nanbyo#1000251 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "39" xsd:string |
| dcterms:identifier | "1000251" xsd:string |
| hasExactSynonym | "" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/039-201704-kojin.pdf |
| rdfs:label | "中毒性表皮壊死症（特殊型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000248 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002254 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008840 |
| http://nanbyodata.jp/ontology/nanbyo#1000252 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "39" xsd:string |
| dcterms:identifier | "1000252" xsd:string |
| hasExactSynonym | "" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/039-201704-kojin.pdf |
| rdfs:label | "中毒性表皮壊死症（不全型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000248 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002254 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008840 |
| http://nanbyodata.jp/ontology/nanbyo#1000253 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "40" xsd:string |
| dcterms:identifier | "1000253" xsd:string |
| hasExactSynonym | "Aortitis syndrome" @en |
| hasExactSynonym | "Takayasu arteritis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/040-201804-kojin.pdf |
| rdfs:label | "高安動脈炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0006656 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017991 |
| http://nanbyodata.jp/ontology/nanbyo#1000254 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "40" xsd:string |
| dcterms:identifier | "1000254" xsd:string |
| hasExactSynonym | "Type I Takayasu arteritis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/040-201804-kojin.pdf |
| rdfs:label | "高安動脈炎（Ⅰ型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000253 |
| http://nanbyodata.jp/ontology/nanbyo#1000255 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "40" xsd:string |
| dcterms:identifier | "1000255" xsd:string |
| hasExactSynonym | "Type Ⅱa Takayasu arteritis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/040-201804-kojin.pdf |
| rdfs:label | "高安動脈炎（Ⅱa型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000253 |
| http://nanbyodata.jp/ontology/nanbyo#1000256 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "40" xsd:string |
| dcterms:identifier | "1000256" xsd:string |
| hasExactSynonym | "Type Ⅱb Takayasu arteritis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/040-201804-kojin.pdf |
| rdfs:label | "高安動脈炎（Ⅱb型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000253 |
| http://nanbyodata.jp/ontology/nanbyo#1000257 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "40" xsd:string |
| dcterms:identifier | "1000257" xsd:string |
| hasExactSynonym | "Type Ⅲ Takayasu arteritis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/040-201804-kojin.pdf |
| rdfs:label | "高安動脈炎（Ⅲ型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000253 |
| http://nanbyodata.jp/ontology/nanbyo#1000258 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "40" xsd:string |
| dcterms:identifier | "1000258" xsd:string |
| hasExactSynonym | "Type Ⅳ Takayasu arteritis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/040-201804-kojin.pdf |
| rdfs:label | "高安動脈炎（Ⅳ型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000253 |
| http://nanbyodata.jp/ontology/nanbyo#1000259 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "40" xsd:string |
| dcterms:identifier | "1000259" xsd:string |
| hasExactSynonym | "Type Ⅴ Takayasu arteritis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/040-201804-kojin.pdf |
| rdfs:label | "高安動脈炎（Ⅴ型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000253 |
| http://nanbyodata.jp/ontology/nanbyo#1000260 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "41" xsd:string |
| dcterms:identifier | "1000260" xsd:string |
| hasExactSynonym | "Giant cell arteritis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/041-201704-kojin.pdf |
| rdfs:label | "巨細胞性動脈炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008538 |
| http://nanbyodata.jp/ontology/nanbyo#1000261 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "41" xsd:string |
| dcterms:identifier | "1000261" xsd:string |
| hasExactSynonym | "" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/041-201704-kojin.pdf |
| rdfs:label | "巨細胞性動脈炎（側頭動脈・顎動脈・眼動脈などの頭蓋領域の動脈に限局）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000260 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002254 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008840 |
| http://nanbyodata.jp/ontology/nanbyo#1000262 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "41" xsd:string |
| dcterms:identifier | "1000262" xsd:string |
| hasExactSynonym | "" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/041-201704-kojin.pdf |
| rdfs:label | "巨細胞性動脈炎（頭蓋領域の動脈に限局せず大動脈・総頸動脈・鎖骨下動脈などにも分布）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000260 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002254 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008840 |
| http://nanbyodata.jp/ontology/nanbyo#1000263 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "42" xsd:string |
| dcterms:identifier | "1000263" xsd:string |
| hasExactSynonym | "Polyarteritis nodosa" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/042-201704-kojin.pdf |
| rdfs:label | "結節性多発動脈炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019170 |
| http://nanbyodata.jp/ontology/nanbyo#1000264 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "43" xsd:string |
| dcterms:identifier | "1000264" xsd:string |
| hasExactSynonym | "Microscopic polyangiitis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/043-201704-kojin.pdf |
| rdfs:label | "顕微鏡的多発血管炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019124 |
| http://nanbyodata.jp/ontology/nanbyo#1000265 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "44" xsd:string |
| dcterms:identifier | "1000265" xsd:string |
| hasExactSynonym | "Wegeners granulomatosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/044-201704-kojin.pdf |
| rdfs:label | "多発血管炎性肉芽腫症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000266 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "45" xsd:string |
| dcterms:identifier | "1000266" xsd:string |
| hasExactSynonym | "Eosinophilic Granulomatosis with Polyangiitis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/045-201704-kojin.pdf |
| rdfs:label | "好酸球性多発血管炎性肉芽腫症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015943 |
| http://nanbyodata.jp/ontology/nanbyo#1000267 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "46" xsd:string |
| dcterms:identifier | "1000267" xsd:string |
| hasExactSynonym | "Rheumatoid arthritis with vasculitis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/046-201704-kojin.pdf |
| rdfs:label | "悪性関節リウマチ" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000268 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "47" xsd:string |
| dcterms:identifier | "1000268" xsd:string |
| hasExactSynonym | "Thromboangiitis obliterans" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/047-201704-kojin.pdf |
| rdfs:label | "バージャー病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008889 |
| http://nanbyodata.jp/ontology/nanbyo#1000269 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "48" xsd:string |
| dcterms:identifier | "1000269" xsd:string |
| hasExactSynonym | "Antiphospholipid syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/048-201704-kojin.pdf |
| rdfs:label | "原発性抗リン脂質抗体症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007140 |
| http://nanbyodata.jp/ontology/nanbyo#1000270 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "48" xsd:string |
| dcterms:identifier | "1000270" xsd:string |
| hasExactSynonym | "Thrombotic Antiphospholipid Syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/048-201704-kojin.pdf |
| rdfs:label | "動静脈血栓症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000269 |
| http://nanbyodata.jp/ontology/nanbyo#1000271 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "48" xsd:string |
| dcterms:identifier | "1000271" xsd:string |
| hasExactSynonym | "Antiphospholipid Syndrome and Pregnancy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/048-201704-kojin.pdf |
| rdfs:label | "妊娠合併症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000269 |
| http://nanbyodata.jp/ontology/nanbyo#1000272 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "48" xsd:string |
| dcterms:identifier | "1000272" xsd:string |
| hasExactSynonym | "Catastrophic antiphospholipid syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/048-201704-kojin.pdf |
| rdfs:label | "劇症型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000269 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018737 |
| http://nanbyodata.jp/ontology/nanbyo#1000274 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "49" xsd:string |
| dcterms:identifier | "1000274" xsd:string |
| hasExactSynonym | "Systemic lupus erythematosus" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/049-201804-kojin.pdf |
| rdfs:label | "全身性エリテマトーデス" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007915 |
| http://nanbyodata.jp/ontology/nanbyo#1000275 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "50" xsd:string |
| dcterms:identifier | "1000275" xsd:string |
| hasExactSynonym | "Dermatomyositis/Polymyositis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/050-201704-kojin.pdf |
| rdfs:label | "皮膚筋炎／多発性筋炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000276 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "50" xsd:string |
| dcterms:identifier | "1000276" xsd:string |
| hasExactSynonym | "Dermatomyositis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/050-201704-kojin.pdf |
| rdfs:label | "皮膚筋炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000275 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016367 |
| http://nanbyodata.jp/ontology/nanbyo#1000277 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "50" xsd:string |
| dcterms:identifier | "1000277" xsd:string |
| hasExactSynonym | "amyopathic dermatomyositis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/050-201704-kojin.pdf |
| rdfs:label | "無筋症性皮膚筋炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000275 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016367 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0043317 |
| http://nanbyodata.jp/ontology/nanbyo#1000278 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "50" xsd:string |
| dcterms:identifier | "1000278" xsd:string |
| hasExactSynonym | "Polymyositis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/050-201704-kojin.pdf |
| rdfs:label | "多発性筋炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000275 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019127 |
| http://nanbyodata.jp/ontology/nanbyo#1000279 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "51" xsd:string |
| dcterms:identifier | "1000279" xsd:string |
| hasExactSynonym | "Systemic scleroderma" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/051-201704-kojin.pdf |
| rdfs:label | "全身性強皮症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005100 |
| http://nanbyodata.jp/ontology/nanbyo#1000280 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "52" xsd:string |
| dcterms:identifier | "1000280" xsd:string |
| hasExactSynonym | "Mixed connective tissue disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/052-201704-kojin.pdf |
| rdfs:label | "混合性結合組織病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005854 |
| http://nanbyodata.jp/ontology/nanbyo#1000281 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "53" xsd:string |
| dcterms:identifier | "1000281" xsd:string |
| hasExactSynonym | "Sjogren syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/053-201704-kojin.pdf |
| rdfs:label | "シェーグレン症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010030 |
| http://nanbyodata.jp/ontology/nanbyo#1000282 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "53" xsd:string |
| dcterms:identifier | "1000282" xsd:string |
| hasExactSynonym | "Primary Sjogren syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/053-201704-kojin.pdf |
| rdfs:label | "一次性シェーグレン症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000281 |
| http://nanbyodata.jp/ontology/nanbyo#1000283 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "53" xsd:string |
| dcterms:identifier | "1000283" xsd:string |
| hasExactSynonym | "Secondary Sjogren Syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/053-201704-kojin.pdf |
| rdfs:label | "二次性シェーグレン症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000281 |
| http://nanbyodata.jp/ontology/nanbyo#1000284 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "54" xsd:string |
| dcterms:identifier | "1000284" xsd:string |
| hasExactSynonym | "Adult still disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/054-201704-kojin.pdf |
| rdfs:label | "成人スチル病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019355 |
| http://nanbyodata.jp/ontology/nanbyo#1000285 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "55" xsd:string |
| dcterms:identifier | "1000285" xsd:string |
| hasExactSynonym | "Relapsing polychondritis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/055-201704-kojin.pdf |
| rdfs:label | "再発性多発軟骨炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019125 |
| http://nanbyodata.jp/ontology/nanbyo#1000286 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "56" xsd:string |
| dcterms:identifier | "1000286" xsd:string |
| hasExactSynonym | "Behcet disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/056-201704-kojin.pdf |
| rdfs:label | "ベーチェット病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007191 |
| http://nanbyodata.jp/ontology/nanbyo#1000287 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "57" xsd:string |
| dcterms:identifier | "1000287" xsd:string |
| hasExactSynonym | "Idiopathic dilated cardiomyopathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/057-201704-kojin.pdf |
| rdfs:label | "特発性拡張型心筋症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000288 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "58" xsd:string |
| dcterms:identifier | "1000288" xsd:string |
| hasExactSynonym | "Hypertrophic cardiomyopathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/058-201704-kojin.pdf |
| rdfs:label | "肥大型心筋症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005045 |
| http://nanbyodata.jp/ontology/nanbyo#1000289 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "58" xsd:string |
| dcterms:identifier | "1000289" xsd:string |
| hasExactSynonym | "HNCM" @en |
| hasExactSynonym | "hypertrophic nonobstructive cardiomyopathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/058-201704-kojin.pdf |
| rdfs:label | "非閉塞性肥大型心筋症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000288 |
| http://nanbyodata.jp/ontology/nanbyo#1000290 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "58" xsd:string |
| dcterms:identifier | "1000290" xsd:string |
| hasExactSynonym | "HOCM" @en |
| hasExactSynonym | "hypertrophic obstructive cardiomyopathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/058-201704-kojin.pdf |
| rdfs:label | "閉塞性肥大型心筋症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000288 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005045 |
| http://nanbyodata.jp/ontology/nanbyo#1000291 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "58" xsd:string |
| dcterms:identifier | "1000291" xsd:string |
| hasExactSynonym | "MVO" @en |
| hasExactSynonym | "mid-ventricular obstruction" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/058-201704-kojin.pdf |
| rdfs:label | "心室中部閉塞性肥大型心筋症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000288 |
| http://nanbyodata.jp/ontology/nanbyo#1000292 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "58" xsd:string |
| dcterms:identifier | "1000292" xsd:string |
| hasExactSynonym | "apical hypertrophic cardiomyopathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/058-201704-kojin.pdf |
| rdfs:label | "心尖部肥大型心筋症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000288 |
| http://nanbyodata.jp/ontology/nanbyo#1000293 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "58" xsd:string |
| dcterms:identifier | "1000293" xsd:string |
| hasExactSynonym | "dilated phase of hypertrophic cardiomyopathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/058-201704-kojin.pdf |
| rdfs:label | "拡張相肥大型心筋症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000288 |
| http://nanbyodata.jp/ontology/nanbyo#1000294 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "59" xsd:string |
| dcterms:identifier | "1000294" xsd:string |
| hasExactSynonym | "Restrictive cardiomyopathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/059-201804-kojin.pdf |
| rdfs:label | "拘束型心筋症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005201 |
| http://nanbyodata.jp/ontology/nanbyo#1000295 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "59" xsd:string |
| dcterms:identifier | "1000295" xsd:string |
| hasExactSynonym | "Idiopathic restrictive cardiomyopathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/059-201804-kojin.pdf |
| rdfs:label | "特発性拘束型心筋症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000294 |
| http://nanbyodata.jp/ontology/nanbyo#1000296 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "59" xsd:string |
| dcterms:identifier | "1000296" xsd:string |
| hasExactSynonym | "Secondary restrictive cardiomyopathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/059-201804-kojin.pdf |
| rdfs:label | "二次性拘束型心筋症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000294 |
| http://nanbyodata.jp/ontology/nanbyo#1000297 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "60" xsd:string |
| dcterms:identifier | "1000297" xsd:string |
| hasExactSynonym | "Aplastic anemia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/060-201704-kojin.pdf |
| rdfs:label | "再生不良性貧血" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012197 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015909 |
| http://nanbyodata.jp/ontology/nanbyo#1000298 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "60" xsd:string |
| dcterms:identifier | "1000298" xsd:string |
| hasExactSynonym | "Idiopathic aplastic anemia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/060-201704-kojin.pdf |
| rdfs:label | "特発性再生不良性貧血" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000297 |
| http://nanbyodata.jp/ontology/nanbyo#1000299 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "60" xsd:string |
| dcterms:identifier | "1000299" xsd:string |
| hasExactSynonym | "Secondary aplastic anemia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/060-201704-kojin.pdf |
| rdfs:label | "二次性再生不良性貧血" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000297 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012197 |
| http://nanbyodata.jp/ontology/nanbyo#1000301 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "60" xsd:string |
| dcterms:identifier | "1000301" xsd:string |
| hasExactSynonym | "Hepatitis-Associated Aplastic Anemia" @en |
| hasExactSynonym | "肝炎後再生不良性貧血" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/060-201704-kojin.pdf |
| rdfs:label | "肝炎後" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000300 |
| http://nanbyodata.jp/ontology/nanbyo#1000302 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "60" xsd:string |
| dcterms:identifier | "1000302" xsd:string |
| hasExactSynonym | "aplastic anaemia--paroxysmal nocturnal haemoglobinuria syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/060-201704-kojin.pdf |
| rdfs:label | "再生不良性貧血-PNH症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000300 |
| http://nanbyodata.jp/ontology/nanbyo#1000304 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "60" xsd:string |
| dcterms:identifier | "1000304" xsd:string |
| hasExactSynonym | "Congenital aplastic anemia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/060-201704-kojin.pdf |
| rdfs:label | "先天性再生不良性貧血" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000297 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001713 |
| http://nanbyodata.jp/ontology/nanbyo#1000305 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "60" xsd:string |
| dcterms:identifier | "1000305" xsd:string |
| hasExactSynonym | "fanconi anemia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/060-201704-kojin.pdf |
| rdfs:label | "ファンコニ貧血" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000304 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009215 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019391 |
| http://nanbyodata.jp/ontology/nanbyo#1000306 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "60" xsd:string |
| dcterms:identifier | "1000306" xsd:string |
| hasExactSynonym | "dyskeratosis congenita" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/060-201704-kojin.pdf |
| rdfs:label | "先天性角化異常症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000304 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015780 |
| http://nanbyodata.jp/ontology/nanbyo#1000307 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "61" xsd:string |
| dcterms:identifier | "1000307" xsd:string |
| hasExactSynonym | "Autoimmune hemolytic anemia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/061-201704-kojin.pdf |
| rdfs:label | "自己免疫性溶血性貧血" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020108 |
| http://nanbyodata.jp/ontology/nanbyo#1000308 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "61" xsd:string |
| dcterms:identifier | "1000308" xsd:string |
| hasExactSynonym | "Warm autoimmune hemolytic anemia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/061-201704-kojin.pdf |
| rdfs:label | "温式自己免疫性溶血性貧血" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000307 |
| http://nanbyodata.jp/ontology/nanbyo#1000309 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "61" xsd:string |
| dcterms:identifier | "1000309" xsd:string |
| hasExactSynonym | "cold agglutinin disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/061-201704-kojin.pdf |
| rdfs:label | "寒冷凝集素症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000307 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018922 |
| http://nanbyodata.jp/ontology/nanbyo#1000310 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "61" xsd:string |
| dcterms:identifier | "1000310" xsd:string |
| hasExactSynonym | "paroxysmal cold haemoglobinuria" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/061-201704-kojin.pdf |
| rdfs:label | "寒冷ヘモグロビン尿症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000307 |
| http://nanbyodata.jp/ontology/nanbyo#1000311 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "61" xsd:string |
| dcterms:identifier | "1000311" xsd:string |
| hasExactSynonym | "Mixed-type autoimmune hemolytic anemia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/061-201704-kojin.pdf |
| rdfs:label | "混合型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000307 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019534 |
| http://nanbyodata.jp/ontology/nanbyo#1000312 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "61" xsd:string |
| dcterms:identifier | "1000312" xsd:string |
| hasExactSynonym | "Evans syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/061-201704-kojin.pdf |
| rdfs:label | "エヴァンズ症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000307 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016030 |
| http://nanbyodata.jp/ontology/nanbyo#1000313 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "62" xsd:string |
| dcterms:identifier | "1000313" xsd:string |
| hasExactSynonym | "Paroxysmal nocturnal hemoglobinuria" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/062-201704-kojin.pdf |
| rdfs:label | "発作性夜間ヘモグロビン尿症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018641 |
| http://nanbyodata.jp/ontology/nanbyo#1000314 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "62" xsd:string |
| dcterms:identifier | "1000314" xsd:string |
| hasExactSynonym | "Classical Paroxysmal Nocturnal Hemoglobinuria" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/062-201704-kojin.pdf |
| rdfs:label | "古典的PNH" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000313 |
| http://nanbyodata.jp/ontology/nanbyo#1000315 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "62" xsd:string |
| dcterms:identifier | "1000315" xsd:string |
| hasExactSynonym | "PNH in the setting of another specified bone marrow disorder" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/062-201704-kojin.pdf |
| rdfs:label | "骨髄不全型PNH" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000313 |
| http://nanbyodata.jp/ontology/nanbyo#1000316 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "62" xsd:string |
| dcterms:identifier | "1000316" xsd:string |
| hasExactSynonym | "Paroxysmal nocturnal hemoglobinuria" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/062-201704-kojin.pdf |
| rdfs:label | "混合型PNH" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000313 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018641 |
| http://nanbyodata.jp/ontology/nanbyo#1000317 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "63" xsd:string |
| dcterms:identifier | "1000317" xsd:string |
| hasExactSynonym | "Idiopathic thrombocytopenic purpura" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/063-201704-kojin.pdf |
| rdfs:label | "特発性血小板減少性紫斑病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000318 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "64" xsd:string |
| dcterms:identifier | "1000318" xsd:string |
| hasExactSynonym | "Thrombotic thrombocytopenic purpura" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/064-201704-kojin.pdf |
| rdfs:label | "血栓性血小板減少性紫斑病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018896 |
| http://nanbyodata.jp/ontology/nanbyo#1000319 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "64" xsd:string |
| dcterms:identifier | "1000319" xsd:string |
| hasExactSynonym | "Congenital thrombotic thrombocytopenic purpura" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/064-201704-kojin.pdf |
| rdfs:label | "先天性血栓性血小板減少性紫斑病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000318 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010122 |
| http://nanbyodata.jp/ontology/nanbyo#1000320 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "64" xsd:string |
| dcterms:identifier | "1000320" xsd:string |
| hasExactSynonym | "Acquired idiopathic thrombotic thrombocytopenic purpura" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/064-201704-kojin.pdf |
| rdfs:label | "後天性原発性血栓性血小板減少性紫斑病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000318 |
| http://nanbyodata.jp/ontology/nanbyo#1000321 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "64" xsd:string |
| dcterms:identifier | "1000321" xsd:string |
| hasExactSynonym | "secondary thrombotic thrombocytopenic purpura" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/064-201704-kojin.pdf |
| rdfs:label | "後天性二次性血栓性血小板減少性紫斑病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000318 |
| http://nanbyodata.jp/ontology/nanbyo#1000322 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000322" xsd:string |
| hasExactSynonym | "Primary immunodeficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "原発性免疫不全症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0003778 |
| http://nanbyodata.jp/ontology/nanbyo#1000323 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000323" xsd:string |
| hasExactSynonym | "X-linked severe combined immunodeficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "X連鎖重症複合免疫不全症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010315 |
| http://nanbyodata.jp/ontology/nanbyo#1000324 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000324" xsd:string |
| hasExactSynonym | "Reticular dysgenesis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "細網異形成症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009973 |
| http://nanbyodata.jp/ontology/nanbyo#1000325 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000325" xsd:string |
| hasExactSynonym | "ADA欠損症" @ja |
| hasExactSynonym | "Adenosine deaminase deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "アデノシンデアミナーゼ 欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007064 |
| http://nanbyodata.jp/ontology/nanbyo#1000326 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000326" xsd:string |
| hasExactSynonym | "Omenn syndrome" @en |
| hasExactSynonym | "Omenn症候群" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "オーメン症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011338 |
| http://nanbyodata.jp/ontology/nanbyo#1000327 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000327" xsd:string |
| hasExactSynonym | "Purine nucleoside phosphorylase deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "プリンヌクレオシドホスホリラーゼ欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013171 |
| http://nanbyodata.jp/ontology/nanbyo#1000328 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000328" xsd:string |
| hasExactSynonym | "CD8 deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "CD8欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| http://nanbyodata.jp/ontology/nanbyo#1000329 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000329" xsd:string |
| hasExactSynonym | "Zap-70 deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "ZAP-70欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010023 |
| http://nanbyodata.jp/ontology/nanbyo#1000330 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000330" xsd:string |
| hasExactSynonym | "MHC class I deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "MHCクラスI欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011476 |
| http://nanbyodata.jp/ontology/nanbyo#1000331 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000331" xsd:string |
| hasExactSynonym | "MHC class II deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "MHCクラスII欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008855 |
| http://nanbyodata.jp/ontology/nanbyo#1000332 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000332" xsd:string |
| hasExactSynonym | "Wiskott-Aldrich syndrome" @en |
| hasExactSynonym | "Wiskott-Aldrich症候群" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "ウィスコット・オルドリッチ症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010518 |
| http://nanbyodata.jp/ontology/nanbyo#1000333 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000333" xsd:string |
| hasExactSynonym | "Ataxia telangiectasia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "毛細血管拡張性運動失調症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008840 |
| http://nanbyodata.jp/ontology/nanbyo#1000334 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000334" xsd:string |
| hasExactSynonym | "Nijmegen breakage syndrome" @en |
| hasExactSynonym | "Nijmegen breakage症候群" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "ナイミーヘン染色体不安定症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009623 |
| http://nanbyodata.jp/ontology/nanbyo#1000335 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000335" xsd:string |
| hasExactSynonym | "Bloom syndrome" @en |
| hasExactSynonym | "Bloom症候群" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "ブルーム症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008876 |
| http://nanbyodata.jp/ontology/nanbyo#1000336 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000336" xsd:string |
| hasExactSynonym | "ICF syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "ICF症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000133 |
| http://nanbyodata.jp/ontology/nanbyo#1000337 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000337" xsd:string |
| hasExactSynonym | "PMS2 deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "PMS2異常症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| http://nanbyodata.jp/ontology/nanbyo#1000338 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000338" xsd:string |
| hasExactSynonym | "RIDDLE syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "RIDDLE症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012764 |
| http://nanbyodata.jp/ontology/nanbyo#1000339 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000339" xsd:string |
| hasExactSynonym | "Schimke syndrome" @en |
| hasExactSynonym | "Schimke症候群" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "シムケ症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009458 |
| http://nanbyodata.jp/ontology/nanbyo#1000340 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000340" xsd:string |
| hasExactSynonym | "Netherton syndrome" @en |
| hasExactSynonym | "Netherton症候群" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "ネザートン症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009735 |
| http://nanbyodata.jp/ontology/nanbyo#1000341 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000341" xsd:string |
| hasExactSynonym | "thymus hypoplasia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "胸腺低形成" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| http://nanbyodata.jp/ontology/nanbyo#1000342 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000342" xsd:string |
| hasExactSynonym | "DiGeorge syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "DiGeorge症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000341 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008564 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018923 |
| http://nanbyodata.jp/ontology/nanbyo#1000343 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000343" xsd:string |
| hasExactSynonym | "22q11.2 deletion syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "22q11.2欠失症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000341 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008564 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018923 |
| http://nanbyodata.jp/ontology/nanbyo#1000344 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000344" xsd:string |
| hasExactSynonym | "Hyper-IgE syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "高IgE症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018037 |
| http://nanbyodata.jp/ontology/nanbyo#1000345 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000345" xsd:string |
| hasExactSynonym | "Hepatic veno-occlusive disease-immunodeficiency syndrome" @en |
| hasExactSynonym | "Hepatic Veno-Occlusive Disease with Immunodeficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "肝中心静脈閉鎖症を伴う免疫不全症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009338 |
| http://nanbyodata.jp/ontology/nanbyo#1000346 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000346" xsd:string |
| hasExactSynonym | "Dyskeratosis congenita" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "先天性角化不全症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015780 |
| http://nanbyodata.jp/ontology/nanbyo#1000347 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000347" xsd:string |
| hasExactSynonym | "X-linked agammaglobulinemia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "X連鎖無ガンマグロブリン血症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010421 |
| http://nanbyodata.jp/ontology/nanbyo#1000348 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000348" xsd:string |
| hasExactSynonym | "Common variable immunodeficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "分類不能型免疫不全症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015517 |
| http://nanbyodata.jp/ontology/nanbyo#1000349 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000349" xsd:string |
| hasExactSynonym | "Hyper IgM syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "高IgM症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0003947 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010626 |
| http://nanbyodata.jp/ontology/nanbyo#1000350 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000350" xsd:string |
| hasExactSynonym | "IgG subclass deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "IgGサブクラス欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0045045 |
| http://nanbyodata.jp/ontology/nanbyo#1000351 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000351" xsd:string |
| hasExactSynonym | "Selective IgA deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "選択的IgA欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001341 |
| http://nanbyodata.jp/ontology/nanbyo#1000352 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000352" xsd:string |
| hasExactSynonym | "Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "特異抗体産生不全症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| http://nanbyodata.jp/ontology/nanbyo#1000353 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000353" xsd:string |
| hasExactSynonym | "Transient hypogammaglobulinaemia of infancy with normal numbers of B cells" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "乳児一過性低ガンマグロブリン血症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| http://nanbyodata.jp/ontology/nanbyo#1000354 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000354" xsd:string |
| hasExactSynonym | "Chédiak-Higashi syndrome" @en |
| hasExactSynonym | "Chédiak-Higashi症候群" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "チェディアック・東症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008963 |
| http://nanbyodata.jp/ontology/nanbyo#1000355 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000355" xsd:string |
| hasExactSynonym | "X-linked lymphoproliferative syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "X連鎖リンパ増殖症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010627 |
| http://nanbyodata.jp/ontology/nanbyo#1000356 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000356" xsd:string |
| hasExactSynonym | "ALPS" @en |
| hasExactSynonym | "ALPS" @ja |
| hasExactSynonym | "Autoimmune lymphoproliferative syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "自己免疫性リンパ増殖症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011158 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017979 |
| http://nanbyodata.jp/ontology/nanbyo#1000357 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000357" xsd:string |
| hasExactSynonym | "Severe congenital neutropenia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "重症先天性好中球減少症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018542 |
| http://nanbyodata.jp/ontology/nanbyo#1000358 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000358" xsd:string |
| hasExactSynonym | "Cyclic neutropenia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "周期性好中球減少症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008090 |
| http://nanbyodata.jp/ontology/nanbyo#1000359 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000359" xsd:string |
| hasExactSynonym | "Leukocyte adhesion deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "白血球接着不全症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017570 |
| http://nanbyodata.jp/ontology/nanbyo#1000360 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000360" xsd:string |
| hasExactSynonym | "Shwachman-Diamond syndrome" @en |
| hasExactSynonym | "Shwachman-Diamond症候群" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "シュワッハマン・ダイアモンド症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009833 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0044204 |
| http://nanbyodata.jp/ontology/nanbyo#1000361 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000361" xsd:string |
| hasExactSynonym | "Chronic granulomatous disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "慢性肉芽腫症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018305 |
| http://nanbyodata.jp/ontology/nanbyo#1000362 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000362" xsd:string |
| hasExactSynonym | "Myeloperoxidase deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "ミエロペルオキシダーゼ欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009694 |
| http://nanbyodata.jp/ontology/nanbyo#1000363 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000363" xsd:string |
| hasExactSynonym | "Mendelian susceptibility to mycobacterial disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "メンデル遺伝型マイコバクテリア易感染症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| http://nanbyodata.jp/ontology/nanbyo#1000364 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000364" xsd:string |
| hasExactSynonym | "Anhidrotic ectodermal dysplasia with immunodeficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "免疫不全を伴う無汗性外胚葉形成異常症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010293 |
| http://nanbyodata.jp/ontology/nanbyo#1000365 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000365" xsd:string |
| hasExactSynonym | "IRAK4 deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "IRAK4欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| http://nanbyodata.jp/ontology/nanbyo#1000366 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000366" xsd:string |
| hasExactSynonym | "MyD88 deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "MyD88欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| http://nanbyodata.jp/ontology/nanbyo#1000367 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000367" xsd:string |
| hasExactSynonym | "Chronic mucocutaneous candidiasis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "慢性皮膚粘膜カンジダ症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015279 |
| http://nanbyodata.jp/ontology/nanbyo#1000368 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000368" xsd:string |
| hasExactSynonym | "Inherited deficiency of complement system" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "先天性補体欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| http://nanbyodata.jp/ontology/nanbyo#1000369 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "1000369" xsd:string |
| hasExactSynonym | "C1 inhibitor deficiency" @en |
| hasExactSynonym | "C1インヒビター欠損症" @ja |
| hasExactSynonym | "Hereditary angioedema" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf |
| rdfs:label | "遺伝性血管性浮腫" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000322 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007361 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019623 |
| http://nanbyodata.jp/ontology/nanbyo#1000370 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "66" xsd:string |
| dcterms:identifier | "1000370" xsd:string |
| hasExactSynonym | "IgA nephropathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/066-201704-kojin.pdf |
| rdfs:label | "IgＡ腎症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005342 |
| http://nanbyodata.jp/ontology/nanbyo#1000371 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "67" xsd:string |
| dcterms:identifier | "1000371" xsd:string |
| hasExactSynonym | "Polycystic kidney" @en |
| rdfs:isDefinedBy | file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl |
| rdfs:label | "多発性嚢胞腎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020642 |
| http://nanbyodata.jp/ontology/nanbyo#1000372 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "67" xsd:string |
| dcterms:identifier | "1000372" xsd:string |
| hasExactSynonym | "ADPKD" @en |
| hasExactSynonym | "Autosomal Dominant Polycystic Kidney Disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/067-01-201704-kojin.pdf |
| rdfs:label | "常染色体優性多発性嚢胞腎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000371 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0004691 |
| http://nanbyodata.jp/ontology/nanbyo#1000373 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "67" xsd:string |
| dcterms:identifier | "1000373" xsd:string |
| hasExactSynonym | "ARPKD" @en |
| hasExactSynonym | "Autosomal Dominant Polycystic Kidney Disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/067-02-201704-kojin.pdf |
| rdfs:label | "常染色体劣性多発性嚢胞腎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000371 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0004691 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009889 |
| http://nanbyodata.jp/ontology/nanbyo#1000374 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000009 |
| has_notification_number | "68" xsd:string |
| dcterms:identifier | "1000374" xsd:string |
| hasExactSynonym | "Ossification of the ligamentum flavum" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/068-201704-kojin.pdf |
| rdfs:label | "黄色靱帯骨化症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000375 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000009 |
| has_notification_number | "69" xsd:string |
| dcterms:identifier | "1000375" xsd:string |
| hasExactSynonym | "Ossification of posterior longitudinal ligament" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/069-201704-kojin.pdf |
| rdfs:label | "後縦靱帯骨化症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011230 |
| http://nanbyodata.jp/ontology/nanbyo#1000376 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000009 |
| has_notification_number | "70" xsd:string |
| dcterms:identifier | "1000376" xsd:string |
| hasExactSynonym | "Spinal stenosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/070-201704-kojin.pdf |
| rdfs:label | "広範脊柱管狭窄症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005965 |
| http://nanbyodata.jp/ontology/nanbyo#1000377 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000009 |
| has_notification_number | "71" xsd:string |
| dcterms:identifier | "1000377" xsd:string |
| hasExactSynonym | "Idiopathic osteonecrosis of the femoral head" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/071-201704-kojin.pdf |
| rdfs:label | "特発性大腿骨頭壊死症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000378 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "72" xsd:string |
| dcterms:identifier | "1000378" xsd:string |
| hasExactSynonym | "Pituitary ADH secretion disorders" @en |
| rdfs:isDefinedBy | file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl |
| rdfs:label | "下垂体性ADH分泌異常症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000379 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "72" xsd:string |
| dcterms:identifier | "1000379" xsd:string |
| hasExactSynonym | "Central diabetes insipidus" @en |
| hasExactSynonym | "バゾプレシン分泌低下症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/072-01-201704-kojin.pdf |
| rdfs:label | "中枢性尿崩症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000378 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007450 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015790 |
| http://nanbyodata.jp/ontology/nanbyo#1000380 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "72" xsd:string |
| dcterms:identifier | "1000380" xsd:string |
| hasExactSynonym | "SIADH" @en |
| hasExactSynonym | "Syndrome of inappropriate secretion of antidiuretic hormone" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/072-02-201704-kojin.pdf |
| rdfs:label | "バゾプレシン分泌過剰症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000378 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0006802 |
| http://nanbyodata.jp/ontology/nanbyo#1000381 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "73" xsd:string |
| dcterms:identifier | "1000381" xsd:string |
| hasExactSynonym | "TSH-secreting pituitary adenoma" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/073-201704-kojin.pdf |
| rdfs:label | "下垂体性TSH分泌亢進症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019611 |
| http://nanbyodata.jp/ontology/nanbyo#1000382 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "74" xsd:string |
| dcterms:identifier | "1000382" xsd:string |
| hasExactSynonym | "Prolactin secreting pituitary adenoma" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/074-201704-kojin.pdf |
| rdfs:label | "下垂体性PRL分泌亢進症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010911 |
| http://nanbyodata.jp/ontology/nanbyo#1000383 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "75" xsd:string |
| dcterms:identifier | "1000383" xsd:string |
| hasExactSynonym | "Cushing disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/075-201704-kojin.pdf |
| rdfs:label | "クッシング病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0003009 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009050 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018912 |
| http://nanbyodata.jp/ontology/nanbyo#1000384 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "76" xsd:string |
| dcterms:identifier | "1000384" xsd:string |
| hasExactSynonym | "Pituitary gonadotropin secretion hyperthyroidism" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/076-201704-kojin.pdf |
| rdfs:label | "下垂体性ゴナドトロピン分泌亢進症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000385 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "76" xsd:string |
| dcterms:identifier | "1000385" xsd:string |
| hasExactSynonym | "Central precocious puberty" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/076-201704-kojin.pdf |
| rdfs:label | "中枢性思春期早発症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000384 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019165 |
| http://nanbyodata.jp/ontology/nanbyo#1000386 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "76" xsd:string |
| dcterms:identifier | "1000386" xsd:string |
| hasExactSynonym | "GH secreting pituitary adenoma" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/076-201704-kojin.pdf |
| rdfs:label | "下垂体ゴナドトロピン産生腫瘍" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000384 |
| http://nanbyodata.jp/ontology/nanbyo#1000387 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "77" xsd:string |
| dcterms:identifier | "1000387" xsd:string |
| hasExactSynonym | "Growth hormone secreting pituitary adenoma" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/077-201704-kojin.pdf |
| rdfs:label | "下垂体性成長ホルモン分泌亢進症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0006238 |
| http://nanbyodata.jp/ontology/nanbyo#1000388 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "78" xsd:string |
| dcterms:identifier | "1000388" xsd:string |
| hasExactSynonym | "Hypopituitarism" @en |
| rdfs:isDefinedBy | file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl |
| rdfs:label | "下垂体前葉機能低下症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005152 |
| http://nanbyodata.jp/ontology/nanbyo#1000389 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "78" xsd:string |
| dcterms:identifier | "1000389" xsd:string |
| hasExactSynonym | "Syndrome of abnormal secretion of gonadotropin" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/078-01-201704-kojin.pdf |
| rdfs:label | "ゴナドトロピン分泌低下症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000388 |
| http://nanbyodata.jp/ontology/nanbyo#1000390 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "78" xsd:string |
| dcterms:identifier | "1000390" xsd:string |
| hasExactSynonym | "ACTH分泌低下症" @ja |
| hasExactSynonym | "Syndrome of abnormal secretion of adrenocorticotropic hormone" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/078-02-201704-kojin.pdf |
| rdfs:label | "副腎皮質刺激ホルモン分泌低下症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000388 |
| http://nanbyodata.jp/ontology/nanbyo#1000391 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "78" xsd:string |
| dcterms:identifier | "1000391" xsd:string |
| hasExactSynonym | "Syndrome of abnormal secretion of thyroid-stimulating hormone" @en |
| hasExactSynonym | "TSH分泌低下症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/078-03-201704-kojin.pdf |
| rdfs:label | "甲状腺刺激ホルモン分泌低下症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000388 |
| http://nanbyodata.jp/ontology/nanbyo#1000392 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "78" xsd:string |
| dcterms:identifier | "1000392" xsd:string |
| hasExactSynonym | "Growth hormone secretion deficiency of dwarfism" @en |
| hasExactSynonym | "成長ホルモン分泌不全症（小児）" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/078-04-201704-kojin.pdf |
| rdfs:label | "GH 分泌不全性低身長症（小児）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000388 |
| http://nanbyodata.jp/ontology/nanbyo#1000393 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "78" xsd:string |
| dcterms:identifier | "1000393" xsd:string |
| hasExactSynonym | "Adult growth hormone deficiency" @en |
| hasExactSynonym | "成長ホルモン分泌不全症（成人）" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/078-05-201704-kojin.pdf |
| rdfs:label | "成人GH 分泌不全症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000388 |
| http://nanbyodata.jp/ontology/nanbyo#1000394 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "78" xsd:string |
| dcterms:identifier | "1000394" xsd:string |
| hasExactSynonym | "Syndrome of abnormal secretion of Prolactin" @en |
| hasExactSynonym | "プロラクチン分泌低下症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/078-06-201704-kojin.pdf |
| rdfs:label | "プロラクチン分泌低下症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000388 |
| http://nanbyodata.jp/ontology/nanbyo#1000395 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "79" xsd:string |
| dcterms:identifier | "1000395" xsd:string |
| hasExactSynonym | "Homozygous familial hypercholesterolemia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/079-201704-kojin.pdf |
| rdfs:label | "家族性高コレステロール血症（ホモ接合体）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018328 |
| http://nanbyodata.jp/ontology/nanbyo#1000396 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "80" xsd:string |
| dcterms:identifier | "1000396" xsd:string |
| hasExactSynonym | "Resistance to thyroid hormone" @en |
| hasExactSynonym | "Syndrome of resistance to thyroid hormone" @en |
| hasExactSynonym | "Thyroid hormone insensitivity syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/080-201704-kojin.pdf |
| rdfs:label | "甲状腺ホルモン不応症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000397 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "81" xsd:string |
| dcterms:identifier | "1000397" xsd:string |
| hasExactSynonym | "Congenial adrenal cortex enzyme deficiency" @en |
| hasExactSynonym | "Congenital adrenal enzyme deficiency" @en |
| hasExactSynonym | "Congenital adrenal hyperplasia" @en |
| rdfs:isDefinedBy | file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl |
| rdfs:label | "先天性副腎皮質酵素欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015898 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018479 |
| http://nanbyodata.jp/ontology/nanbyo#1000398 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "81" xsd:string |
| dcterms:identifier | "1000398" xsd:string |
| hasExactSynonym | "Congenital Lipoid Adrenal Hyperplasia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/081-01-201704-kojin.pdf |
| rdfs:label | "先天性リポイド過形成症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000397 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018479 |
| http://nanbyodata.jp/ontology/nanbyo#1000399 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "81" xsd:string |
| dcterms:identifier | "1000399" xsd:string |
| hasExactSynonym | "3β-Hydroxysteroid Dehydrogenase Deficiency" @en |
| hasExactSynonym | "３β-HSD欠損症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/081-02-201704-kojin.pdf |
| rdfs:label | "3β−水酸化ステロイド脱水素酵素欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000397 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008727 |
| http://nanbyodata.jp/ontology/nanbyo#1000400 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "81" xsd:string |
| dcterms:identifier | "1000400" xsd:string |
| hasExactSynonym | "21-Hydroxylase deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/081-03-201704-kojin.pdf |
| rdfs:label | "21-水酸化酵素欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000397 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008728 |
| http://nanbyodata.jp/ontology/nanbyo#1000401 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "81" xsd:string |
| dcterms:identifier | "1000401" xsd:string |
| hasExactSynonym | "11β-Hydroxylase deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/081-04-201704-kojin.pdf |
| rdfs:label | "11β-水酸化酵素欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000397 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008729 |
| http://nanbyodata.jp/ontology/nanbyo#1000402 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "81" xsd:string |
| dcterms:identifier | "1000402" xsd:string |
| hasExactSynonym | "17α-Hydroxylase deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/081-05-201704-kojin.pdf |
| rdfs:label | "17α−水酸化酵素欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000397 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008730 |
| http://nanbyodata.jp/ontology/nanbyo#1000403 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "81" xsd:string |
| dcterms:identifier | "1000403" xsd:string |
| hasExactSynonym | "P450 Oxidoreductase deficiency" @en |
| hasExactSynonym | "POR欠損症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/081-06-201704-kojin.pdf |
| rdfs:label | "P450オキシドレダクターゼ欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000397 |
| http://nanbyodata.jp/ontology/nanbyo#1000404 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "82" xsd:string |
| dcterms:identifier | "1000404" xsd:string |
| hasExactSynonym | "Congenital adrenal hypoplasia" @en |
| hasExactSynonym | "X-linked congenital adrenal hypoplasia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/082-201704-kojin.pdf |
| rdfs:label | "先天性副腎低形成症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010264 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016241 |
| http://nanbyodata.jp/ontology/nanbyo#1000405 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "82" xsd:string |
| dcterms:identifier | "1000405" xsd:string |
| hasExactSynonym | "DAX1 abnormality" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/082-201704-kojin.pdf |
| rdfs:label | "DAX-1異常症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000404 |
| http://nanbyodata.jp/ontology/nanbyo#1000406 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "82" xsd:string |
| dcterms:identifier | "1000406" xsd:string |
| hasExactSynonym | "SF-1 abnormality" @en |
| hasExactSynonym | "SF-1/Ad4BP異常症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/082-201704-kojin.pdf |
| rdfs:label | "SF-1異常症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000404 |
| http://nanbyodata.jp/ontology/nanbyo#1000407 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "82" xsd:string |
| dcterms:identifier | "1000407" xsd:string |
| hasExactSynonym | "IMAGe syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/082-201704-kojin.pdf |
| rdfs:label | "IMAge症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000404 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013873 |
| http://nanbyodata.jp/ontology/nanbyo#1000408 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "82" xsd:string |
| dcterms:identifier | "1000408" xsd:string |
| hasExactSynonym | "ACTH unresponsiveness" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/082-201704-kojin.pdf |
| rdfs:label | "ACTH不応症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000404 |
| http://nanbyodata.jp/ontology/nanbyo#1000409 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "82" xsd:string |
| dcterms:identifier | "1000409" xsd:string |
| hasExactSynonym | "MC2R deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/082-201704-kojin.pdf |
| rdfs:label | "MC2R異常症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000408 |
| http://nanbyodata.jp/ontology/nanbyo#1000410 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "82" xsd:string |
| dcterms:identifier | "1000410" xsd:string |
| hasExactSynonym | "MRAP deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/082-201704-kojin.pdf |
| rdfs:label | "MRAP異常症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000408 |
| http://nanbyodata.jp/ontology/nanbyo#1000411 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "82" xsd:string |
| dcterms:identifier | "1000411" xsd:string |
| hasExactSynonym | "Allgrove Syndrome" @en |
| hasExactSynonym | "Triple A syndrome" @en |
| hasExactSynonym | "TripleA症候群" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/082-201704-kojin.pdf |
| rdfs:label | "Allgrove症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000404 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009279 |
| http://nanbyodata.jp/ontology/nanbyo#1000412 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "83" xsd:string |
| dcterms:identifier | "1000412" xsd:string |
| hasExactSynonym | "Addison disease" @en |
| hasExactSynonym | "Primary chronic adrenocortical insufficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/083-201704-kojin.pdf |
| rdfs:label | "アジソン病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009410 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015129 |
| http://nanbyodata.jp/ontology/nanbyo#1000413 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "83" xsd:string |
| dcterms:identifier | "1000413" xsd:string |
| hasExactSynonym | "Autoimmune Addison disease" @en |
| hasExactSynonym | "特発性アジソン病" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/083-201704-kojin.pdf |
| rdfs:label | "アジソン病（自己免疫性副腎炎）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000412 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009410 |
| http://nanbyodata.jp/ontology/nanbyo#1000414 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "83" xsd:string |
| dcterms:identifier | "1000414" xsd:string |
| hasExactSynonym | "Tuberculous Addison's disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/083-201704-kojin.pdf |
| rdfs:label | "結核性アジソン病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000412 |
| http://nanbyodata.jp/ontology/nanbyo#1000415 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "83" xsd:string |
| dcterms:identifier | "1000415" xsd:string |
| hasExactSynonym | "Infectious Addison's diseas" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/083-201704-kojin.pdf |
| rdfs:label | "アジソン病（感染症）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000412 |
| http://nanbyodata.jp/ontology/nanbyo#1000416 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
| has_notification_number | "84" xsd:string |
| dcterms:identifier | "1000416" xsd:string |
| hasExactSynonym | "Sarcoidosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/084-201704-kojin.pdf |
| rdfs:label | "サルコイドーシス" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019338 |
| http://nanbyodata.jp/ontology/nanbyo#1000417 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
| has_notification_number | "85" xsd:string |
| dcterms:identifier | "1000417" xsd:string |
| hasExactSynonym | "Idiopathic interstitial pneumonia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/085-201704-kojin.pdf |
| rdfs:label | "特発性間質性肺炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000418 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
| has_notification_number | "85" xsd:string |
| dcterms:identifier | "1000418" xsd:string |
| hasExactSynonym | "IPF" @ja |
| hasExactSynonym | "Idiopathic pulmonary fibrosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/085-201704-kojin.pdf |
| rdfs:label | "特発性肺線維症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000417 |
| http://nanbyodata.jp/ontology/nanbyo#1000420 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
| has_notification_number | "85" xsd:string |
| dcterms:identifier | "1000420" xsd:string |
| hasExactSynonym | "nonspecific interstitial pneumonia" @en |
| hasExactSynonym | "非特異的間質性肺炎 " @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/085-201704-kojin.pdf |
| rdfs:label | "NSIP" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000419 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019622 |
| http://nanbyodata.jp/ontology/nanbyo#1000421 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
| has_notification_number | "85" xsd:string |
| dcterms:identifier | "1000421" xsd:string |
| hasExactSynonym | "acute interstitial pneumonia" @en |
| hasExactSynonym | "急性間質性肺炎" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/085-201704-kojin.pdf |
| rdfs:label | "AIP" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000419 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019203 |
| http://nanbyodata.jp/ontology/nanbyo#1000422 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
| has_notification_number | "85" xsd:string |
| dcterms:identifier | "1000422" xsd:string |
| hasExactSynonym | "Cryptogenic organizing pneumonia" @en |
| hasExactSynonym | "特発性器質化肺炎" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/085-201704-kojin.pdf |
| rdfs:label | "COP" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000419 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015264 |
| http://nanbyodata.jp/ontology/nanbyo#1000423 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
| has_notification_number | "85" xsd:string |
| dcterms:identifier | "1000423" xsd:string |
| hasExactSynonym | "desquamative interstitial pneumonia" @en |
| hasExactSynonym | "剥離型間質性肺炎 " @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/085-201704-kojin.pdf |
| rdfs:label | "DIP" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000419 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009887 |
| http://nanbyodata.jp/ontology/nanbyo#1000424 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
| has_notification_number | "85" xsd:string |
| dcterms:identifier | "1000424" xsd:string |
| hasExactSynonym | "Respiratory bronchiolitis-associated interstitial lung disease" @en |
| hasExactSynonym | "呼吸細気管支炎関連間質性肺炎" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/085-201704-kojin.pdf |
| rdfs:label | "RB-ILD" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000419 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009887 |
| http://nanbyodata.jp/ontology/nanbyo#1000425 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
| has_notification_number | "85" xsd:string |
| dcterms:identifier | "1000425" xsd:string |
| hasExactSynonym | "Lymphoid interstitial pneumonia" @en |
| hasExactSynonym | "リンパ球性間質性肺炎" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/085-201704-kojin.pdf |
| rdfs:label | "LIP" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000419 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009537 |
| http://nanbyodata.jp/ontology/nanbyo#1000426 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
| has_notification_number | "86" xsd:string |
| dcterms:identifier | "1000426" xsd:string |
| hasExactSynonym | "Pulmonary arterial hypertension" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/086-201704-kojin.pdf |
| rdfs:label | "肺動脈性肺高血圧症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015924 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0024533 |
| http://nanbyodata.jp/ontology/nanbyo#1000427 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
| has_notification_number | "87" xsd:string |
| dcterms:identifier | "1000427" xsd:string |
| hasExactSynonym | "Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/087-201704-kojin.pdf |
| rdfs:label | "肺静脈閉塞症／肺毛細血管腫症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018554 |
| http://nanbyodata.jp/ontology/nanbyo#1000428 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
| has_notification_number | "87" xsd:string |
| dcterms:identifier | "1000428" xsd:string |
| hasExactSynonym | "Pulmonary venous obstruction" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/087-201704-kojin.pdf |
| rdfs:label | "肺静脈閉塞症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000427 |
| http://nanbyodata.jp/ontology/nanbyo#1000429 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
| has_notification_number | "87" xsd:string |
| dcterms:identifier | "1000429" xsd:string |
| hasExactSynonym | "Pulmonary capillary hemangiomatosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/087-201704-kojin.pdf |
| rdfs:label | "肺毛細血管腫症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000427 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009329 |
| http://nanbyodata.jp/ontology/nanbyo#1000430 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
| has_notification_number | "88" xsd:string |
| dcterms:identifier | "1000430" xsd:string |
| hasExactSynonym | "Chronic thromboembolic pulmonary hypertension" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/088-201704-kojin.pdf |
| rdfs:label | "慢性血栓塞栓性肺高血圧症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013024 |
| http://nanbyodata.jp/ontology/nanbyo#1000431 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
| has_notification_number | "89" xsd:string |
| dcterms:identifier | "1000431" xsd:string |
| hasExactSynonym | "Lymphangioleiomyomatosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/089-201704-kojin.pdf |
| rdfs:label | "リンパ脈管筋腫症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0006277 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011705 |
| http://nanbyodata.jp/ontology/nanbyo#1000432 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
| has_notification_number | "90" xsd:string |
| dcterms:identifier | "1000432" xsd:string |
| hasExactSynonym | "Retinitis pigmentosa" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/090-201704-kojin.pdf |
| rdfs:label | "網膜色素変性症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008377 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011202 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019200 |
| http://nanbyodata.jp/ontology/nanbyo#1000433 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
| has_notification_number | "90" xsd:string |
| dcterms:identifier | "1000433" xsd:string |
| hasExactSynonym | "Sporadic retinitis pigmentosa" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/090-201704-kojin.pdf |
| rdfs:label | "網膜色素変性症（孤発型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000432 |
| http://nanbyodata.jp/ontology/nanbyo#1000434 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
| has_notification_number | "90" xsd:string |
| dcterms:identifier | "1000434" xsd:string |
| hasExactSynonym | "autosomal dominant retinitis pigmentosa" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/090-201704-kojin.pdf |
| rdfs:label | "網膜色素変性症（常染色体優性遺伝子型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000432 |
| http://nanbyodata.jp/ontology/nanbyo#1000435 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
| has_notification_number | "90" xsd:string |
| dcterms:identifier | "1000435" xsd:string |
| hasExactSynonym | "Autosomal Recessive Retinitis Pigmentosa" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/090-201704-kojin.pdf |
| rdfs:label | "網膜色素変性症（常染色体劣性遺伝子型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000432 |
| http://nanbyodata.jp/ontology/nanbyo#1000436 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
| has_notification_number | "90" xsd:string |
| dcterms:identifier | "1000436" xsd:string |
| hasExactSynonym | "X-linked recessive retinitis pigmentosa" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/090-201704-kojin.pdf |
| rdfs:label | "網膜色素変性症（X染色体劣性遺伝子型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000432 |
| http://nanbyodata.jp/ontology/nanbyo#1000437 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
| has_notification_number | "90" xsd:string |
| dcterms:identifier | "1000437" xsd:string |
| hasExactSynonym | "Digenic retinitis pigmentosa" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/090-201704-kojin.pdf |
| rdfs:label | "網膜色素変性症（二遺伝子異常型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000432 |
| http://nanbyodata.jp/ontology/nanbyo#1000438 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "91" xsd:string |
| dcterms:identifier | "1000438" xsd:string |
| hasExactSynonym | "Budd-Chiari syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/091-201704-kojin.pdf |
| rdfs:label | "バッド・キアリ症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0006786 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010947 |
| http://nanbyodata.jp/ontology/nanbyo#1000439 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "92" xsd:string |
| dcterms:identifier | "1000439" xsd:string |
| hasExactSynonym | "Banti syndrome" @en |
| hasExactSynonym | "Idiopathic portal hypertension" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/092-201704-kojin.pdf |
| rdfs:label | "特発性門脈圧亢進症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0021969 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0037251 |
| http://nanbyodata.jp/ontology/nanbyo#1000440 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "93" xsd:string |
| dcterms:identifier | "1000440" xsd:string |
| hasExactSynonym | "Primary biliary cirrhosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/093-201704-kojin.pdf |
| rdfs:label | "原発性胆汁性胆管炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005388 |
| http://nanbyodata.jp/ontology/nanbyo#1000441 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "94" xsd:string |
| dcterms:identifier | "1000441" xsd:string |
| hasExactSynonym | "Primary sclerosing cholangitis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/094-201704-kojin.pdf |
| rdfs:label | "原発性硬化性胆管炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013433 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018646 |
| http://nanbyodata.jp/ontology/nanbyo#1000442 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "95" xsd:string |
| dcterms:identifier | "1000442" xsd:string |
| hasExactSynonym | "Autoimmune hepatitis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/095-201704-kojin.pdf |
| rdfs:label | "自己免疫性肝炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016264 |
| http://nanbyodata.jp/ontology/nanbyo#1000444 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "95" xsd:string |
| dcterms:identifier | "1000444" xsd:string |
| hasExactSynonym | "" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/095-201704-kojin.pdf |
| rdfs:label | "自己免疫性肝炎（非典型例）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000442 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002254 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008840 |
| http://nanbyodata.jp/ontology/nanbyo#1000445 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "96" xsd:string |
| dcterms:identifier | "1000445" xsd:string |
| hasExactSynonym | "Crohn disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/096-201704-kojin.pdf |
| rdfs:label | "クローン病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005011 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009960 |
| http://nanbyodata.jp/ontology/nanbyo#1000446 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "96" xsd:string |
| dcterms:identifier | "1000446" xsd:string |
| hasExactSynonym | "Ileal Crohn's disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/096-201704-kojin.pdf |
| rdfs:label | "小腸型クローン病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000445 |
| http://nanbyodata.jp/ontology/nanbyo#1000447 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "96" xsd:string |
| dcterms:identifier | "1000447" xsd:string |
| hasExactSynonym | "Colonic Crohn Disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/096-201704-kojin.pdf |
| rdfs:label | "大腸型クローン病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000445 |
| http://nanbyodata.jp/ontology/nanbyo#1000448 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "96" xsd:string |
| dcterms:identifier | "1000448" xsd:string |
| hasExactSynonym | "Crohn ileocolitis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/096-201704-kojin.pdf |
| rdfs:label | "小腸大腸型クローン病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000445 |
| http://nanbyodata.jp/ontology/nanbyo#1000449 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "96" xsd:string |
| dcterms:identifier | "1000449" xsd:string |
| hasExactSynonym | "atypical crohn's disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/096-201704-kojin.pdf |
| rdfs:label | "特殊型クローン病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000445 |
| http://nanbyodata.jp/ontology/nanbyo#1000450 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "97" xsd:string |
| dcterms:identifier | "1000450" xsd:string |
| hasExactSynonym | "Ulcerative colitis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/097-201804-kojin.pdf |
| rdfs:label | "潰瘍性大腸炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005101 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009960 |
| http://nanbyodata.jp/ontology/nanbyo#1000451 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "97" xsd:string |
| dcterms:identifier | "1000451" xsd:string |
| hasExactSynonym | "pan-ulcerative colitis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/097-201804-kojin.pdf |
| rdfs:label | "潰瘍性大腸炎（全大腸炎型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000450 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005536 |
| http://nanbyodata.jp/ontology/nanbyo#1000452 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "97" xsd:string |
| dcterms:identifier | "1000452" xsd:string |
| hasExactSynonym | "left-sided colitis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/097-201804-kojin.pdf |
| rdfs:label | "潰瘍性大腸炎（左側大腸炎型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000450 |
| http://nanbyodata.jp/ontology/nanbyo#1000453 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "97" xsd:string |
| dcterms:identifier | "1000453" xsd:string |
| hasExactSynonym | "Ulcerative proctitis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/097-201804-kojin.pdf |
| rdfs:label | "潰瘍性大腸炎（直腸炎型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000450 |
| http://nanbyodata.jp/ontology/nanbyo#1000454 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "97" xsd:string |
| dcterms:identifier | "1000454" xsd:string |
| hasExactSynonym | "Right-sided ulcerative colitis" @en |
| hasExactSynonym | "segmental colitis" @en |
| hasExactSynonym | "潰瘍性大腸炎（分節型）" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/097-201804-kojin.pdf |
| rdfs:label | "潰瘍性大腸炎（右側型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000450 |
| http://nanbyodata.jp/ontology/nanbyo#1000455 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "98" xsd:string |
| dcterms:identifier | "1000455" xsd:string |
| hasExactSynonym | "Eosinophilic gastrointestinal disease" @en |
| rdfs:isDefinedBy | file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl |
| rdfs:label | "好酸球性消化管疾患" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018438 |
| http://nanbyodata.jp/ontology/nanbyo#1000456 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "98" xsd:string |
| dcterms:identifier | "1000456" xsd:string |
| hasExactSynonym | "N-FPIES" @ja |
| hasExactSynonym | "Neonatal food-protein induced enterocolitis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/098-01-201704-kojin.pdf |
| rdfs:label | "新生児乳児食物蛋白誘発胃腸炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000455 |
| http://nanbyodata.jp/ontology/nanbyo#1000457 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "98" xsd:string |
| dcterms:identifier | "1000457" xsd:string |
| hasExactSynonym | "EoE" @ja |
| hasExactSynonym | "Eosinophilic esophagitis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/098-02-201704-kojin.pdf |
| rdfs:label | "好酸球性食道炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000455 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005361 |
| http://nanbyodata.jp/ontology/nanbyo#1000458 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "98" xsd:string |
| dcterms:identifier | "1000458" xsd:string |
| hasExactSynonym | "EGE" @ja |
| hasExactSynonym | "Eosinophilic gastroenteritis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/098-02-201704-kojin.pdf |
| rdfs:label | "好酸球性胃腸炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000455 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016129 |
| http://nanbyodata.jp/ontology/nanbyo#1000459 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "99" xsd:string |
| dcterms:identifier | "1000459" xsd:string |
| hasExactSynonym | "Chronic intestinal pseudo-obstruction" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/099-201704-kojin.pdf |
| rdfs:label | "慢性特発性偽性腸閉塞症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017574 |
| http://nanbyodata.jp/ontology/nanbyo#1000460 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "100" xsd:string |
| dcterms:identifier | "1000460" xsd:string |
| hasExactSynonym | "Huge bladder short and small colon intestinal peristalsis deficiency" @en |
| hasExactSynonym | "Megacystis microcolon intestinal hypoperistalsis syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/100-201704-kojin.pdf |
| rdfs:label | "巨大膀胱短小結腸腸管蠕動不全症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007960 |
| http://nanbyodata.jp/ontology/nanbyo#1000461 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "101" xsd:string |
| dcterms:identifier | "1000461" xsd:string |
| hasExactSynonym | "Congenital isolated hypoganglionosis" @en |
| hasExactSynonym | "Intestinal ganglion cells insignificant disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/101-201704-kojin.pdf |
| rdfs:label | "腸管神経節細胞僅少症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000462 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "102" xsd:string |
| dcterms:identifier | "1000462" xsd:string |
| hasExactSynonym | "Rubinstein-Taybi syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/102-201704-kojin.pdf |
| rdfs:label | "ルビンシュタイン・テイビ症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019188 |
| http://nanbyodata.jp/ontology/nanbyo#1000463 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "103" xsd:string |
| dcterms:identifier | "1000463" xsd:string |
| hasExactSynonym | "CFC syndrome" @en |
| hasExactSynonym | "Cardio-facio-cutaneous syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/103-201704-kojin.pdf |
| rdfs:label | "CFC症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007265 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015280 |
| http://nanbyodata.jp/ontology/nanbyo#1000464 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "104" xsd:string |
| dcterms:identifier | "1000464" xsd:string |
| hasExactSynonym | "Costello syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/104-201704-kojin.pdf |
| rdfs:label | "コステロ症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009026 |
| http://nanbyodata.jp/ontology/nanbyo#1000465 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "105" xsd:string |
| dcterms:identifier | "1000465" xsd:string |
| hasExactSynonym | "CHARGE syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/105-201704-kojin.pdf |
| rdfs:label | "チャージ症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008965 |
| http://nanbyodata.jp/ontology/nanbyo#1000466 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "106" xsd:string |
| dcterms:identifier | "1000466" xsd:string |
| hasExactSynonym | "Cryopyrin associated periodic fever syndrome" @en |
| hasExactSynonym | "Cryopyrin-associated periodic syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/106-201704-kojin.pdf |
| rdfs:label | "クリオピリン関連周期熱症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016168 |
| http://nanbyodata.jp/ontology/nanbyo#1000467 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "106" xsd:string |
| dcterms:identifier | "1000467" xsd:string |
| hasExactSynonym | "FCAS" @en |
| hasExactSynonym | "FCAS" @ja |
| hasExactSynonym | "Familial cold autoinflammatorysyndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/106-201704-kojin.pdf |
| rdfs:label | "家族性寒冷蕁麻疹" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000466 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007349 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018768 |
| http://nanbyodata.jp/ontology/nanbyo#1000468 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "106" xsd:string |
| dcterms:identifier | "1000468" xsd:string |
| hasExactSynonym | "MWS" @en |
| hasExactSynonym | "MWS" @ja |
| hasExactSynonym | "Muckle-Wells syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/106-201704-kojin.pdf |
| rdfs:label | "Muckle-Wells症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000466 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008633 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009564 |
| http://nanbyodata.jp/ontology/nanbyo#1000469 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "106" xsd:string |
| dcterms:identifier | "1000469" xsd:string |
| hasExactSynonym | "CINCA syndrome" @en |
| hasExactSynonym | "Chronic infantile neurological cutaneous articular syndrome" @en |
| hasExactSynonym | "NOMID" @ja |
| hasExactSynonym | "Neonatal Onset Multisystem Inflammatory Disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/106-201704-kojin.pdf |
| rdfs:label | "CINCA症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000466 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011776 |
| http://nanbyodata.jp/ontology/nanbyo#1000470 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "107" xsd:string |
| dcterms:identifier | "1000470" xsd:string |
| hasExactSynonym | "Juvenile idiopathic arthritis" @en |
| hasExactSynonym | "Systemic-onset juvenile idiopathic arthritis" @en |
| rdfs:isDefinedBy | file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl |
| rdfs:label | "若年性特発性関節炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011429 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019434 |
| http://nanbyodata.jp/ontology/nanbyo#1000471 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "107" xsd:string |
| dcterms:identifier | "1000471" xsd:string |
| hasExactSynonym | "Systemic juvenile idiopathic arthritis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/107-01-201804-kojin.pdf |
| rdfs:label | "全身型若年性特発性関節炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000470 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019434 |
| http://nanbyodata.jp/ontology/nanbyo#1000472 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "107" xsd:string |
| dcterms:identifier | "1000472" xsd:string |
| hasExactSynonym | "Articular-type juvenile idiopathic arthritis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/107-02-201804-kojin.pdf |
| rdfs:label | "関節型若年性特発性関節炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000470 |
| http://nanbyodata.jp/ontology/nanbyo#1000473 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "108" xsd:string |
| dcterms:identifier | "1000473" xsd:string |
| hasExactSynonym | "TNF receptor-associated periodic syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/108-201704-kojin.pdf |
| rdfs:label | "TNF受容体関連周期性症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007727 |
| http://nanbyodata.jp/ontology/nanbyo#1000474 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "109" xsd:string |
| dcterms:identifier | "1000474" xsd:string |
| hasExactSynonym | "Atypical hemolytic uremic syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/109-201704-kojin.pdf |
| rdfs:label | "非典型溶血性尿毒症症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016244 |
| http://nanbyodata.jp/ontology/nanbyo#1000475 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "109" xsd:string |
| dcterms:identifier | "1000475" xsd:string |
| hasExactSynonym | "congenital atypical hemolytic uremic syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/109-201704-kojin.pdf |
| rdfs:label | "先天性非典型溶血性尿毒症症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000474 |
| http://nanbyodata.jp/ontology/nanbyo#1000476 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "109" xsd:string |
| dcterms:identifier | "1000476" xsd:string |
| hasExactSynonym | "acquired aHUS" @en |
| hasExactSynonym | "acquired atypical hemolytic uremic syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/109-201704-kojin.pdf |
| rdfs:label | "後天性非典型溶血性尿毒症症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000474 |
| http://nanbyodata.jp/ontology/nanbyo#1000477 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "110" xsd:string |
| dcterms:identifier | "1000477" xsd:string |
| hasExactSynonym | "Blau syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/110-201704-kojin.pdf |
| rdfs:label | "ブラウ症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008523 |
| http://nanbyodata.jp/ontology/nanbyo#1000478 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "111" xsd:string |
| dcterms:identifier | "1000478" xsd:string |
| hasExactSynonym | "Congenital myopathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/111-201704-kojin.pdf |
| rdfs:label | "先天性ミオパチー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019952 |
| http://nanbyodata.jp/ontology/nanbyo#1000479 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "111" xsd:string |
| dcterms:identifier | "1000479" xsd:string |
| hasExactSynonym | "Nemaline myopathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/111-201704-kojin.pdf |
| rdfs:label | "ネマリンミオパチー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000478 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018958 |
| http://nanbyodata.jp/ontology/nanbyo#1000480 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "111" xsd:string |
| dcterms:identifier | "1000480" xsd:string |
| hasExactSynonym | "Central core disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/111-201704-kojin.pdf |
| rdfs:label | "セントラルコア病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000478 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007294 |
| http://nanbyodata.jp/ontology/nanbyo#1000481 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "111" xsd:string |
| dcterms:identifier | "1000481" xsd:string |
| hasExactSynonym | "Minicore myopathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/111-201704-kojin.pdf |
| rdfs:label | "ミニコア病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000478 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009712 |
| http://nanbyodata.jp/ontology/nanbyo#1000482 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "111" xsd:string |
| dcterms:identifier | "1000482" xsd:string |
| hasExactSynonym | "Myotubular myopathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/111-201704-kojin.pdf |
| rdfs:label | "ミオチュブラーミオパチー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000478 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018947 |
| http://nanbyodata.jp/ontology/nanbyo#1000483 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "111" xsd:string |
| dcterms:identifier | "1000483" xsd:string |
| hasExactSynonym | "Centronuclear myopathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/111-201704-kojin.pdf |
| rdfs:label | "中心核ミオパチー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000478 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002921 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018947 |
| http://nanbyodata.jp/ontology/nanbyo#1000484 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "111" xsd:string |
| dcterms:identifier | "1000484" xsd:string |
| hasExactSynonym | "Congenital fiber-type disproportion myopathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/111-201704-kojin.pdf |
| rdfs:label | "先天性筋線維タイプ不均等症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000478 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009711 |
| http://nanbyodata.jp/ontology/nanbyo#1000485 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "112" xsd:string |
| dcterms:identifier | "1000485" xsd:string |
| hasExactSynonym | "Marinesco-Sjogren syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/112-201704-kojin.pdf |
| rdfs:label | "マリネスコ・シェーグレン症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009567 |
| http://nanbyodata.jp/ontology/nanbyo#1000486 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "113" xsd:string |
| dcterms:identifier | "1000486" xsd:string |
| hasExactSynonym | "Muscular dystrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/113-201704-kojin.pdf |
| rdfs:label | "筋ジストロフィー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020121 |
| http://nanbyodata.jp/ontology/nanbyo#1000487 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "113" xsd:string |
| dcterms:identifier | "1000487" xsd:string |
| hasExactSynonym | "Dystrophinopathies" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/113-201704-kojin.pdf |
| rdfs:label | "ジストロフィン異常症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000486 |
| http://nanbyodata.jp/ontology/nanbyo#1000488 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "113" xsd:string |
| dcterms:identifier | "1000488" xsd:string |
| hasExactSynonym | "Duchenne muscular dystrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/113-201704-kojin.pdf |
| rdfs:label | "デュシェンヌ型筋ジストロフィー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000487 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010679 |
| http://nanbyodata.jp/ontology/nanbyo#1000489 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "113" xsd:string |
| dcterms:identifier | "1000489" xsd:string |
| hasExactSynonym | "Becker muscular dystrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/113-201704-kojin.pdf |
| rdfs:label | "ベッカー型筋ジストロフィー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000487 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010311 |
| http://nanbyodata.jp/ontology/nanbyo#1000490 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "113" xsd:string |
| dcterms:identifier | "1000490" xsd:string |
| hasExactSynonym | "Limb-girdle muscular dystrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/113-201704-kojin.pdf |
| rdfs:label | "肢帯型筋ジストロフィー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000486 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016971 |
| http://nanbyodata.jp/ontology/nanbyo#1000491 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "113" xsd:string |
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| hasExactSynonym | "Facioscapulohumeral muscular dystrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/113-201704-kojin.pdf |
| rdfs:label | "顔面肩甲上腕型筋ジストロフィー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000486 |
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| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008030 |
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|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "113" xsd:string |
| dcterms:identifier | "1000492" xsd:string |
| hasExactSynonym | "Emery-Dreifuss muscular dystrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/113-201704-kojin.pdf |
| rdfs:label | "エメリー・ドレイフス型筋ジストロフィー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000486 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016830 |
| http://nanbyodata.jp/ontology/nanbyo#1000493 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "113" xsd:string |
| dcterms:identifier | "1000493" xsd:string |
| hasExactSynonym | "Oculopharyngeal muscular dystrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/113-201704-kojin.pdf |
| rdfs:label | "眼咽頭筋型筋ジストロフィー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000486 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008116 |
| http://nanbyodata.jp/ontology/nanbyo#1000494 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "113" xsd:string |
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| hasExactSynonym | "Fukuyama type congenital muscular dystrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/113-201704-kojin.pdf |
| rdfs:label | "福山型先天性筋ジストロフィー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000486 |
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| http://nanbyodata.jp/ontology/nanbyo#1000495 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "113" xsd:string |
| dcterms:identifier | "1000495" xsd:string |
| hasExactSynonym | "Myotonic dystrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/113-201704-kojin.pdf |
| rdfs:label | "筋強直性ジストロフィー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000486 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016107 |
| http://nanbyodata.jp/ontology/nanbyo#1000496 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "114" xsd:string |
| dcterms:identifier | "1000496" xsd:string |
| hasExactSynonym | "Non-dystrophic myotonia syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/114-201704-kojin.pdf |
| rdfs:label | "非ジストロフィー性ミオトニー症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016110 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0054869 |
| http://nanbyodata.jp/ontology/nanbyo#1000497 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "114" xsd:string |
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| hasExactSynonym | "Myotonia congenita" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/114-201704-kojin.pdf |
| rdfs:label | "先天性ミオトニー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000496 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009710 |
| http://nanbyodata.jp/ontology/nanbyo#1000498 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "114" xsd:string |
| dcterms:identifier | "1000498" xsd:string |
| hasExactSynonym | "Thomsen disease" @en |
| hasExactSynonym | "トムゼン病" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/114-201704-kojin.pdf |
| rdfs:label | "先天性ミオトニー(トムゼン病(優性遺伝)" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000497 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008055 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009710 |
| http://nanbyodata.jp/ontology/nanbyo#1000499 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "114" xsd:string |
| dcterms:identifier | "1000499" xsd:string |
| hasExactSynonym | "Becker disease" @en |
| hasExactSynonym | "ベッカー病" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/114-201704-kojin.pdf |
| rdfs:label | "先天性ミオトニー(ベッカー病(劣性遺伝)" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000497 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009715 |
| http://nanbyodata.jp/ontology/nanbyo#1000500 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "114" xsd:string |
| dcterms:identifier | "1000500" xsd:string |
| hasExactSynonym | "Sodium channel myotonia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/114-201704-kojin.pdf |
| rdfs:label | "ナトリウムチャネルミオトニー(カリウム惹起性ミオトニー)" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000496 |
| http://nanbyodata.jp/ontology/nanbyo#1000501 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "114" xsd:string |
| dcterms:identifier | "1000501" xsd:string |
| hasExactSynonym | "Paramyotonia congenita" @en |
| hasExactSynonym | "カリウム惹起性ミオトニー" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/114-201704-kojin.pdf |
| rdfs:label | "先天性パラミオトニー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000496 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008195 |
| http://nanbyodata.jp/ontology/nanbyo#1000502 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "115" xsd:string |
| dcterms:identifier | "1000502" xsd:string |
| hasExactSynonym | "Hereditary periodic paralysis" @en |
| rdfs:isDefinedBy | file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl |
| rdfs:label | "遺伝性周期性四肢麻痺" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000995 |
| http://nanbyodata.jp/ontology/nanbyo#1000503 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "115" xsd:string |
| dcterms:identifier | "1000503" xsd:string |
| hasExactSynonym | "Hereditary Hypokalemic Periodic Paralysis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/115-01-201704-kojin.pdf |
| rdfs:label | "遺伝性低カリウム性周期性四肢麻痺" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000502 |
| http://nanbyodata.jp/ontology/nanbyo#1000504 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "115" xsd:string |
| dcterms:identifier | "1000504" xsd:string |
| hasExactSynonym | "Hereditary Hyperkalemic Periodic Paralysis" @en |
| hasExactSynonym | "正カリウム性周期性四肢麻痺" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/115-02-201704-kojin.pdf |
| rdfs:label | "遺伝性高カリウム性周期性四肢麻痺" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000502 |
| http://nanbyodata.jp/ontology/nanbyo#1000505 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "116" xsd:string |
| dcterms:identifier | "1000505" xsd:string |
| hasExactSynonym | "Atopic myelitis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/116-201704-kojin.pdf |
| rdfs:label | "アトピー性脊髄炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000506 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "117" xsd:string |
| dcterms:identifier | "1000506" xsd:string |
| hasExactSynonym | "Syringomyelia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/117-201704-kojin.pdf |
| rdfs:label | "脊髄空洞症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017987 |
| http://nanbyodata.jp/ontology/nanbyo#1000507 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "117" xsd:string |
| dcterms:identifier | "1000507" xsd:string |
| hasExactSynonym | "symptomatic Syringomyelia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/117-201704-kojin.pdf |
| rdfs:label | "症候性脊髄空洞症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000506 |
| http://nanbyodata.jp/ontology/nanbyo#1000508 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "117" xsd:string |
| dcterms:identifier | "1000508" xsd:string |
| hasExactSynonym | "asymptomatic Syringomyelia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/117-201704-kojin.pdf |
| rdfs:label | "無症候性脊髄空洞症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000506 |
| http://nanbyodata.jp/ontology/nanbyo#1000509 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "118" xsd:string |
| dcterms:identifier | "1000509" xsd:string |
| hasExactSynonym | "Myelomeningocele" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/118-201704-kojin.pdf |
| rdfs:label | "脊髄髄膜瘤" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017069 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019773 |
| http://nanbyodata.jp/ontology/nanbyo#1000510 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "119" xsd:string |
| dcterms:identifier | "1000510" xsd:string |
| hasExactSynonym | "Isaacs syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/119-201704-kojin.pdf |
| rdfs:label | "アイザックス症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016227 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019399 |
| http://nanbyodata.jp/ontology/nanbyo#1000511 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000511" xsd:string |
| hasExactSynonym | "Hereditary dystonia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "遺伝性ジストニア" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000512 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000512" xsd:string |
| hasExactSynonym | "DYT1 dystonia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "DYT1ジストニア" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000511 |
| http://nanbyodata.jp/ontology/nanbyo#1000513 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000513" xsd:string |
| hasExactSynonym | "DYT2 dystonia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "DYT2ジストニア" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000511 |
| http://nanbyodata.jp/ontology/nanbyo#1000514 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000514" xsd:string |
| hasExactSynonym | "DYT3 dystonia" @en |
| hasExactSynonym | "X 染色体連鎖ジストニア・パーキンソニスム" @ja |
| hasExactSynonym | "X-linked dystonia-parkinsonism" @en |
| hasExactSynonym | "lubag" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "DYT3ジストニア" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000511 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010747 |
| http://nanbyodata.jp/ontology/nanbyo#1000515 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000515" xsd:string |
| hasExactSynonym | "DYT4 dystonia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "DYT4ジストニア" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000511 |
| http://nanbyodata.jp/ontology/nanbyo#1000516 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000516" xsd:string |
| hasExactSynonym | "DYT14 dystonia" @en |
| hasExactSynonym | "DYT14ジストニア" @ja |
| hasExactSynonym | "DYT5 dystonia" @en |
| hasExactSynonym | "Dopamine-responsive dystonia" @en |
| hasExactSynonym | "Segawa syndrome" @en |
| hasExactSynonym | "ドパ反応性ジストニア" @ja |
| hasExactSynonym | "瀬川病" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "DYT5ジストニア" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000511 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016812 |
| http://nanbyodata.jp/ontology/nanbyo#1000517 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000517" xsd:string |
| hasExactSynonym | "DYT6 dystonia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "DYT6ジストニア" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000511 |
| http://nanbyodata.jp/ontology/nanbyo#1000518 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000518" xsd:string |
| hasExactSynonym | "DYT7 dystonia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "DYT7ジストニア" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000511 |
| http://nanbyodata.jp/ontology/nanbyo#1000519 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000519" xsd:string |
| hasExactSynonym | "DYT8 dystonia" @en |
| hasExactSynonym | "PNKD1" @en |
| hasExactSynonym | "Paroxysmal nonkinesigenic dyskinesia 1" @en |
| hasExactSynonym | "発作性非運動誘発性ジスキネジア1" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "DYT8ジストニア" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000511 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007326 |
| http://nanbyodata.jp/ontology/nanbyo#1000520 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000520" xsd:string |
| hasExactSynonym | "CSE" @en |
| hasExactSynonym | "DYT9 dystonia" @en |
| hasExactSynonym | "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity" @en |
| hasExactSynonym | "発作性舞踏アテトーシス・痙性対麻痺" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "DYT9ジストニア" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000511 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010983 |
| http://nanbyodata.jp/ontology/nanbyo#1000521 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000521" xsd:string |
| hasExactSynonym | "DYT10 dystonia" @en |
| hasExactSynonym | "EKD1" @en |
| hasExactSynonym | "Episodic kinesigenic dyskinesia 1" @en |
| hasExactSynonym | "反復発作性運動誘発性ジスキネジア1" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "DYT10ジストニア" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000511 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007494 |
| http://nanbyodata.jp/ontology/nanbyo#1000522 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000522" xsd:string |
| hasExactSynonym | "DYT11 dystonia" @en |
| hasExactSynonym | "MDS" @en |
| hasExactSynonym | "Myoclonus-dystonia syndrome" @en |
| hasExactSynonym | "ミオクローヌス・ジストニア症候群" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "DYT11ジストニア" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000511 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000903 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008044 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009532 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018881 |
| http://nanbyodata.jp/ontology/nanbyo#1000523 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000523" xsd:string |
| hasExactSynonym | "DYT12 dystonia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "DYT12ジストニア" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000511 |
| http://nanbyodata.jp/ontology/nanbyo#1000524 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000524" xsd:string |
| hasExactSynonym | "RDP" @en |
| hasExactSynonym | "Rapid-onset dystonia-parkinsonism" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "急性発症ジストニア・パーキンソニズム" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000523 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007496 |
| http://nanbyodata.jp/ontology/nanbyo#1000525 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000525" xsd:string |
| hasExactSynonym | "AHC" @en |
| hasExactSynonym | "alternating hemiplegia of childhood" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "小児交互性片麻痺" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000523 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010264 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016241 |
| http://nanbyodata.jp/ontology/nanbyo#1000526 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000526" xsd:string |
| hasExactSynonym | "CAPOS" @en |
| hasExactSynonym | "cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "小脳失調症深部反射消失凹足視神経萎縮感覚神経障害性聴覚障害" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000523 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011038 |
| http://nanbyodata.jp/ontology/nanbyo#1000527 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000527" xsd:string |
| hasExactSynonym | "DYT13 dystonia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "DYT13ジストニア" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000511 |
| http://nanbyodata.jp/ontology/nanbyo#1000528 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000528" xsd:string |
| hasExactSynonym | "DYT15 dystonia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "DYT15ジストニア" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000511 |
| http://nanbyodata.jp/ontology/nanbyo#1000529 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000529" xsd:string |
| hasExactSynonym | "DYT16 dystonia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "DYT16ジストニア" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000511 |
| http://nanbyodata.jp/ontology/nanbyo#1000530 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000530" xsd:string |
| hasExactSynonym | "DYT17 dystonia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "DYT17ジストニア" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000511 |
| http://nanbyodata.jp/ontology/nanbyo#1000531 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000531" xsd:string |
| hasExactSynonym | "DYT18 dystonia" @en |
| hasExactSynonym | "PED" @en |
| hasExactSynonym | "Paroxysmal execise-induced dyskinesia" @en |
| hasExactSynonym | "発作性労作誘発性ジスキネジア" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "DYT18ジストニア" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000511 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012805 |
| http://nanbyodata.jp/ontology/nanbyo#1000532 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000532" xsd:string |
| hasExactSynonym | "DYT19 dystonia" @en |
| hasExactSynonym | "EKD2" @en |
| hasExactSynonym | "Episodic kinesigenic dyskinesia 2" @en |
| hasExactSynonym | "反復発作性運動誘発性ジスキネジア2" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "DYT19ジストニア" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000511 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012603 |
| http://nanbyodata.jp/ontology/nanbyo#1000533 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000533" xsd:string |
| hasExactSynonym | "DYT20 dystonia" @en |
| hasExactSynonym | "PNKD2" @en |
| hasExactSynonym | "Paroxysmal nonkinesigenic dyskinesia 2" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "DYT20ジストニア" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000511 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012629 |
| http://nanbyodata.jp/ontology/nanbyo#1000534 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000534" xsd:string |
| hasExactSynonym | "NBIA１" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "NBIA1" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000511 |
| http://nanbyodata.jp/ontology/nanbyo#1000535 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000535" xsd:string |
| hasExactSynonym | "Classical pantothenate kinase-associated neurodegeneration" @en |
| hasExactSynonym | "Hallervorden-Spatz syndrome " @en |
| hasExactSynonym | "classical PKAN" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "パントテン酸キナーゼ変異に伴う神経変性症（古典型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000534 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009319 |
| http://nanbyodata.jp/ontology/nanbyo#1000536 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000536" xsd:string |
| hasExactSynonym | "Atypical PKAN" @en |
| hasExactSynonym | "Atypical pantothenate kinase-associated neurodegeneration" @en |
| hasExactSynonym | "Hallervorden-Spatz syndrome " @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "パントテン酸キナーゼ変異に伴う神経変性症（非典型例）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000534 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009319 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016305 |
| http://nanbyodata.jp/ontology/nanbyo#1000537 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000537" xsd:string |
| hasExactSynonym | "Classical INAD" @en |
| hasExactSynonym | "Classical Infantile neuroaxonal dystrophy" @en |
| hasExactSynonym | "NBIA2a" @en |
| hasExactSynonym | "乳児神経軸索ジストロフィー（古典型）" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "NBIA2a" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000511 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0024457 |
| http://nanbyodata.jp/ontology/nanbyo#1000538 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000538" xsd:string |
| hasExactSynonym | "Atypical INAD" @en |
| hasExactSynonym | "Atypical Infantile neuroaxonal dystrophy" @en |
| hasExactSynonym | "NBIA2b" @en |
| hasExactSynonym | "乳児神経軸索ジストロフィー（非典型例）" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "NBIA2b" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000511 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012444 |
| http://nanbyodata.jp/ontology/nanbyo#1000539 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000539" xsd:string |
| hasExactSynonym | "NBIA３" @en |
| hasExactSynonym | "Neuroferritinopathy" @en |
| hasExactSynonym | "神経フェリチン症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "NBIA３" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000511 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011638 |
| http://nanbyodata.jp/ontology/nanbyo#1000540 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000540" xsd:string |
| hasExactSynonym | "Aceruloplasminemia" @en |
| hasExactSynonym | "Hereditary ceruloplasmin deficiency " @en |
| hasExactSynonym | "NBIA４" @en |
| hasExactSynonym | "無セルロプラスミン血症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "NBIA４" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000511 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011426 |
| http://nanbyodata.jp/ontology/nanbyo#1000541 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "1000541" xsd:string |
| hasExactSynonym | "FAHN" @en |
| hasExactSynonym | "Fatty Acid Hydroxylase-associated neurodegeneration" @en |
| hasExactSynonym | "dysmyelinating leukodystrophy and spastic paraparasis with or without dystonia, spastic paraplegia 35" @en |
| hasExactSynonym | "脂肪酸水酸化酵素変異に伴う神経変性症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf |
| rdfs:label | "FAHN" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000511 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012866 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017999 |
| http://nanbyodata.jp/ontology/nanbyo#1000542 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "121" xsd:string |
| dcterms:identifier | "1000542" xsd:string |
| hasExactSynonym | "Neuroferritinopathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/121-201704-kojin.pdf |
| rdfs:label | "神経フェリチン症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011638 |
| http://nanbyodata.jp/ontology/nanbyo#1000543 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "122" xsd:string |
| dcterms:identifier | "1000543" xsd:string |
| hasExactSynonym | "Brain table hemosiderosis" @en |
| hasExactSynonym | "Superficial siderosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/122-201704-kojin.pdf |
| rdfs:label | "脳表ヘモジデリン沈着症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016594 |
| http://nanbyodata.jp/ontology/nanbyo#1000544 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "123" xsd:string |
| dcterms:identifier | "1000544" xsd:string |
| hasExactSynonym | "Autosomal recessive leukoencephalopathy with baldness and degenerative spondylosis" @en |
| hasExactSynonym | "Cerebral autosomal recessive arteriopathy" @en |
| hasExactSynonym | "Cerebral autosomal recessive arteriopathy with baldness and degenerative spondylosis" @en |
| hasExactSynonym | "Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/123-201704-kojin.pdf |
| rdfs:label | "禿頭と変形性脊椎症を伴う常染色体劣性白質脳症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010829 |
| http://nanbyodata.jp/ontology/nanbyo#1000545 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "124" xsd:string |
| dcterms:identifier | "1000545" xsd:string |
| hasExactSynonym | "Autosomal dominant cerebral artery disease with subcortical infarct and leukoencephalopathy" @en |
| hasExactSynonym | "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/124-201704-kojin.pdf |
| rdfs:label | "皮質下梗塞と白質脳症を伴う常染色体優性脳動脈症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007432 |
| http://nanbyodata.jp/ontology/nanbyo#1000546 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "125" xsd:string |
| dcterms:identifier | "1000546" xsd:string |
| hasExactSynonym | "Hereditary diffuse leukoencephalopathy with spheroid" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/125-201704-kojin.pdf |
| rdfs:label | "神経軸索スフェロイド形成を伴う遺伝性びまん性白質脳症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000547 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "126" xsd:string |
| dcterms:identifier | "1000547" xsd:string |
| hasExactSynonym | "Perry syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/126-201704-kojin.pdf |
| rdfs:label | "ペリー症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008201 |
| http://nanbyodata.jp/ontology/nanbyo#1000548 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "127" xsd:string |
| dcterms:identifier | "1000548" xsd:string |
| hasExactSynonym | "Frontotemporal lobar degeneration" @en |
| rdfs:isDefinedBy | file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl |
| rdfs:label | "前頭側頭葉変性症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017276 |
| http://nanbyodata.jp/ontology/nanbyo#1000549 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "127" xsd:string |
| dcterms:identifier | "1000549" xsd:string |
| hasExactSynonym | "Behavioral variant frontotemporal dementia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/127-01-201704-kojin.pdf |
| rdfs:label | "（行動異常型）前頭側頭型認知症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000548 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017160 |
| http://nanbyodata.jp/ontology/nanbyo#1000550 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "127" xsd:string |
| dcterms:identifier | "1000550" xsd:string |
| hasExactSynonym | "Semantic dementia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/127-02-201704-kojin.pdf |
| rdfs:label | "意味性認知症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000548 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010857 |
| http://nanbyodata.jp/ontology/nanbyo#1000551 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "128" xsd:string |
| dcterms:identifier | "1000551" xsd:string |
| hasExactSynonym | "Bickerstaff Brainstem encephalitis" @en |
| hasExactSynonym | "Vickers staff brainstem encephalitis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/128-201704-kojin.pdf |
| rdfs:label | "ビッカースタッフ脳幹脳炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019208 |
| http://nanbyodata.jp/ontology/nanbyo#1000552 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "129" xsd:string |
| dcterms:identifier | "1000552" xsd:string |
| hasExactSynonym | "Acute encephalopathy with biphasic seizures and late reduced diffusion" @en |
| hasExactSynonym | "Epilepticus type acute encphalopathy" @en |
| hasExactSynonym | "Epilepticus type biphasic acute encphalopathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/129-201704-kojin.pdf |
| rdfs:label | "痙攣重積型（二相性）急性脳症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018198 |
| http://nanbyodata.jp/ontology/nanbyo#1000553 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "130" xsd:string |
| dcterms:identifier | "1000553" xsd:string |
| hasExactSynonym | "Congenital insensitivity to pain with anhidrosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/130-201704-kojin.pdf |
| rdfs:label | "先天性無痛無汗症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009746 |
| http://nanbyodata.jp/ontology/nanbyo#1000554 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "131" xsd:string |
| dcterms:identifier | "1000554" xsd:string |
| hasExactSynonym | "Alexander disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/131-201704-kojin.pdf |
| rdfs:label | "アレキサンダー病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008752 |
| http://nanbyodata.jp/ontology/nanbyo#1000555 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "131" xsd:string |
| dcterms:identifier | "1000555" xsd:string |
| hasExactSynonym | "1型アレキサンダー病" @ja |
| hasExactSynonym | "Alexander disease type I" @en |
| hasExactSynonym | "cerebral Alexander disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/131-201704-kojin.pdf |
| rdfs:label | "大脳優位型アレキサンダー病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000554 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018209 |
| http://nanbyodata.jp/ontology/nanbyo#1000556 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "131" xsd:string |
| dcterms:identifier | "1000556" xsd:string |
| hasExactSynonym | "2型アレキサンダー病" @ja |
| hasExactSynonym | "Alexander disease type II" @en |
| hasExactSynonym | "bulbospinal Alexander disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/131-201704-kojin.pdf |
| rdfs:label | "延髄・脊髄優位型アレキサンダー病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000554 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018210 |
| http://nanbyodata.jp/ontology/nanbyo#1000557 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "131" xsd:string |
| dcterms:identifier | "1000557" xsd:string |
| hasExactSynonym | "3型アレキサンダー病" @ja |
| hasExactSynonym | "Alexander disease type III" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/131-201704-kojin.pdf |
| rdfs:label | "中間型アレキサンダー病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000554 |
| http://nanbyodata.jp/ontology/nanbyo#1000558 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "132" xsd:string |
| dcterms:identifier | "1000558" xsd:string |
| hasExactSynonym | "Congenital suprabulbar paresis" @en |
| hasExactSynonym | "Congenital supranuclear bulbar palsy" @en |
| hasExactSynonym | "Worcester drought syndrome" @en |
| hasExactSynonym | "Worster-Drought syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/132-201704-kojin.pdf |
| rdfs:label | "先天性核上性球麻痺" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008503 |
| http://nanbyodata.jp/ontology/nanbyo#1000559 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "133" xsd:string |
| dcterms:identifier | "1000559" xsd:string |
| hasExactSynonym | "Moebius syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/133-201704-kojin.pdf |
| rdfs:label | "メビウス症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008006 |
| http://nanbyodata.jp/ontology/nanbyo#1000560 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
| has_notification_number | "134" xsd:string |
| dcterms:identifier | "1000560" xsd:string |
| hasExactSynonym | "Septo-optic dysplasia/De Morsier syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/134-201704-kojin.pdf |
| rdfs:label | "中隔視神経形成異常症／ドモルシア症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000561 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
| has_notification_number | "134" xsd:string |
| dcterms:identifier | "1000561" xsd:string |
| hasExactSynonym | "" @en |
| hasExactSynonym | "De Morsier syndrome" @en |
| hasExactSynonym | "ドモルシア症候群" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/134-201704-kojin.pdf |
| rdfs:label | "中隔視神経形成異常症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000560 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002254 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008428 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008840 |
| http://nanbyodata.jp/ontology/nanbyo#1000562 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "135" xsd:string |
| dcterms:identifier | "1000562" xsd:string |
| hasExactSynonym | "Aicardi syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/135-201704-kojin.pdf |
| rdfs:label | "アイカルディ症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010568 |
| http://nanbyodata.jp/ontology/nanbyo#1000563 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "136" xsd:string |
| dcterms:identifier | "1000563" xsd:string |
| hasExactSynonym | "Hemimegalencephaly" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/136-201704-kojin.pdf |
| rdfs:label | "片側巨脳症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020492 |
| http://nanbyodata.jp/ontology/nanbyo#1000564 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "137" xsd:string |
| dcterms:identifier | "1000564" xsd:string |
| hasExactSynonym | "Focal cortical dysplasia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/137-201704-kojin.pdf |
| rdfs:label | "限局性皮質異形成" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000565 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "137" xsd:string |
| dcterms:identifier | "1000565" xsd:string |
| hasExactSynonym | "Focal cortical dysplasia type 1a" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/137-201704-kojin.pdf |
| rdfs:label | "FCD タイプ1a" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000564 |
| http://nanbyodata.jp/ontology/nanbyo#1000566 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "137" xsd:string |
| dcterms:identifier | "1000566" xsd:string |
| hasExactSynonym | "Focal cortical dysplasia type 1b" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/137-201704-kojin.pdf |
| rdfs:label | "FCD タイプ1b" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000564 |
| http://nanbyodata.jp/ontology/nanbyo#1000567 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "137" xsd:string |
| dcterms:identifier | "1000567" xsd:string |
| hasExactSynonym | "Focal cortical dysplasia type 1c" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/137-201704-kojin.pdf |
| rdfs:label | "FCD タイプ1c" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000564 |
| http://nanbyodata.jp/ontology/nanbyo#1000568 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "137" xsd:string |
| dcterms:identifier | "1000568" xsd:string |
| hasExactSynonym | "Focal cortical dysplasia type 2a" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/137-201704-kojin.pdf |
| rdfs:label | "FCD タイプ2a" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000564 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011818 |
| http://nanbyodata.jp/ontology/nanbyo#1000569 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "137" xsd:string |
| dcterms:identifier | "1000569" xsd:string |
| hasExactSynonym | "Focal cortical dysplasia type 2b" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/137-201704-kojin.pdf |
| rdfs:label | "FCD タイプ2b" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000564 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011818 |
| http://nanbyodata.jp/ontology/nanbyo#1000570 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "137" xsd:string |
| dcterms:identifier | "1000570" xsd:string |
| hasExactSynonym | "Focal cortical dysplasia type 3a" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/137-201704-kojin.pdf |
| rdfs:label | "FCD タイプ3a" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000564 |
| http://nanbyodata.jp/ontology/nanbyo#1000571 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "137" xsd:string |
| dcterms:identifier | "1000571" xsd:string |
| hasExactSynonym | "Focal cortical dysplasia type 3b" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/137-201704-kojin.pdf |
| rdfs:label | "FCD タイプ3b" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000564 |
| http://nanbyodata.jp/ontology/nanbyo#1000572 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "137" xsd:string |
| dcterms:identifier | "1000572" xsd:string |
| hasExactSynonym | "Focal cortical dysplasia type 3c" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/137-201704-kojin.pdf |
| rdfs:label | "FCD タイプ3c" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000564 |
| http://nanbyodata.jp/ontology/nanbyo#1000573 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "137" xsd:string |
| dcterms:identifier | "1000573" xsd:string |
| hasExactSynonym | "Focal cortical dysplasia type 3d" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/137-201704-kojin.pdf |
| rdfs:label | "FCD タイプ3d" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000564 |
| http://nanbyodata.jp/ontology/nanbyo#1000574 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "138" xsd:string |
| dcterms:identifier | "1000574" xsd:string |
| hasExactSynonym | "Lissencephaly" @en |
| hasExactSynonym | "Nerve cell migration disorders" @en |
| hasExactSynonym | "Neuronal migration defect" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/138-201704-kojin.pdf |
| rdfs:label | "神経細胞移動異常症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018838 |
| http://nanbyodata.jp/ontology/nanbyo#1000575 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "139" xsd:string |
| dcterms:identifier | "1000575" xsd:string |
| hasExactSynonym | "Congenital cerebral hypomyelination" @en |
| hasExactSynonym | "Congenital cerebral white matter aplasia" @en |
| rdfs:isDefinedBy | file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl |
| rdfs:label | "先天性大脳白質形成不全症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000576 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "139" xsd:string |
| dcterms:identifier | "1000576" xsd:string |
| hasExactSynonym | "Pelizaeus-Merzbacher disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/139-01-201704-kojin.pdf |
| rdfs:label | "ペリツェウス・メルツバッハ病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000575 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010714 |
| http://nanbyodata.jp/ontology/nanbyo#1000577 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "139" xsd:string |
| dcterms:identifier | "1000577" xsd:string |
| hasExactSynonym | "Pelizaeus-Merzbacher like disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/139-02-201704-kojin.pdf |
| rdfs:label | "ペリツェウス・メルツバッハ様病１" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000575 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017226 |
| http://nanbyodata.jp/ontology/nanbyo#1000578 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "139" xsd:string |
| dcterms:identifier | "1000578" xsd:string |
| hasExactSynonym | "Hypomyelination with atrophy of the basal ganglia and cerebellum" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/139-03-201704-kojin.pdf |
| rdfs:label | "基底核および小脳萎縮を伴う髄鞘形成不全症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000575 |
| http://nanbyodata.jp/ontology/nanbyo#1000579 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "139" xsd:string |
| dcterms:identifier | "1000579" xsd:string |
| hasExactSynonym | "18q-syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/139-04-201704-kojin.pdf |
| rdfs:label | "18q欠失症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000575 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011147 |
| http://nanbyodata.jp/ontology/nanbyo#1000580 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "139" xsd:string |
| dcterms:identifier | "1000580" xsd:string |
| hasExactSynonym | "Allan-Herndon-Dudley syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/139-05-201704-kojin.pdf |
| rdfs:label | "アラン・ハーンドン・タドリー症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000575 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010354 |
| http://nanbyodata.jp/ontology/nanbyo#1000581 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "139" xsd:string |
| dcterms:identifier | "1000581" xsd:string |
| hasExactSynonym | "Mitochondrial Hsp60 chaperonopathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/139-06-201704-kojin.pdf |
| rdfs:label | "HSP60 chaperon病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000575 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012824 |
| http://nanbyodata.jp/ontology/nanbyo#1000582 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "139" xsd:string |
| dcterms:identifier | "1000582" xsd:string |
| hasExactSynonym | "Salla disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/139-07-201704-kojin.pdf |
| rdfs:label | "サラ病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000575 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011449 |
| http://nanbyodata.jp/ontology/nanbyo#1000583 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "139" xsd:string |
| dcterms:identifier | "1000583" xsd:string |
| hasExactSynonym | "Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/139-08-201704-kojin.pdf |
| rdfs:label | "小脳萎縮と脳梁低形成を伴うび漫性大脳白質形成不全症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000575 |
| http://nanbyodata.jp/ontology/nanbyo#1000584 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "139" xsd:string |
| dcterms:identifier | "1000584" xsd:string |
| hasExactSynonym | "Hypomyelination and congenital cataract" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/139-09-201704-kojin.pdf |
| rdfs:label | "先天性白内障を伴う髄鞘形成不全症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000575 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012514 |
| http://nanbyodata.jp/ontology/nanbyo#1000585 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "139" xsd:string |
| dcterms:identifier | "1000585" xsd:string |
| hasExactSynonym | "Ataxia, delayed dentition, and hypomyelination" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/139-10-201704-kojin.pdf |
| rdfs:label | "失調、歯牙低形成を伴う髄鞘形成不全症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000575 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011897 |
| http://nanbyodata.jp/ontology/nanbyo#1000586 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "139" xsd:string |
| dcterms:identifier | "1000586" xsd:string |
| hasExactSynonym | "PCWH" @en |
| hasExactSynonym | "Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/139-11-201704-kojin.pdf |
| rdfs:label | "脱髄型末梢神経障害、中枢性髄鞘形成不全症、ワーデンバーグ症候群、ヒルシュスプルング病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000575 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012198 |
| http://nanbyodata.jp/ontology/nanbyo#1000587 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "140" xsd:string |
| dcterms:identifier | "1000587" xsd:string |
| hasExactSynonym | "Dorabe syndrome" @en |
| hasExactSynonym | "Dravet syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/140-201704-kojin.pdf |
| rdfs:label | "ドラベ症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011794 |
| http://nanbyodata.jp/ontology/nanbyo#1000588 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "141" xsd:string |
| dcterms:identifier | "1000588" xsd:string |
| hasExactSynonym | "Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis" @en |
| hasExactSynonym | "Mesial temporal lobe epilepsy with hippocampal sclerosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/141-201704-kojin.pdf |
| rdfs:label | "海馬硬化を伴う内側側頭葉てんかん" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020476 |
| http://nanbyodata.jp/ontology/nanbyo#1000589 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "142" xsd:string |
| dcterms:identifier | "1000589" xsd:string |
| hasExactSynonym | "Myoclonic absence epilepsy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/142-201704-kojin.pdf |
| rdfs:label | "ミオクロニー欠神てんかん" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000590 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "143" xsd:string |
| dcterms:identifier | "1000590" xsd:string |
| hasExactSynonym | "Epilepsy with myoclonic cataplexy" @en |
| hasExactSynonym | "Epilepsy with myoclonic-atonic seizures" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/143-201704-kojin.pdf |
| rdfs:label | "ミオクロニー脱力発作を伴うてんかん" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016025 |
| http://nanbyodata.jp/ontology/nanbyo#1000591 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "144" xsd:string |
| dcterms:identifier | "1000591" xsd:string |
| hasExactSynonym | "Lennox-Gastaut syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/144-201704-kojin.pdf |
| rdfs:label | "レノックス・ガストー症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016532 |
| http://nanbyodata.jp/ontology/nanbyo#1000592 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "145" xsd:string |
| dcterms:identifier | "1000592" xsd:string |
| hasExactSynonym | "Infantile spasms" @en |
| hasExactSynonym | "West syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/145-201704-kojin.pdf |
| rdfs:label | "ウエスト症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018097 |
| http://nanbyodata.jp/ontology/nanbyo#1000593 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "146" xsd:string |
| dcterms:identifier | "1000593" xsd:string |
| hasExactSynonym | "Early infantile epileptic encephalopathy with suppression burst" @en |
| hasExactSynonym | "Ohtahara syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/146-201704-kojin.pdf |
| rdfs:label | "大田原症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016021 |
| http://nanbyodata.jp/ontology/nanbyo#1000594 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "147" xsd:string |
| dcterms:identifier | "1000594" xsd:string |
| hasExactSynonym | "Early myoclonic encephalopathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/147-201704-kojin.pdf |
| rdfs:label | "早期ミオクロニー脳症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016022 |
| http://nanbyodata.jp/ontology/nanbyo#1000595 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "148" xsd:string |
| dcterms:identifier | "1000595" xsd:string |
| hasExactSynonym | "Epilepsy of infancy with migrating focal seizures" @en |
| hasExactSynonym | "Infant epilepsy with migratory focus seizure" @en |
| hasExactSynonym | "Migrating partial seizures in infancy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/148-201704-kojin.pdf |
| rdfs:label | "遊走性焦点発作を伴う乳児てんかん" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017385 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0100025 |
| http://nanbyodata.jp/ontology/nanbyo#1000596 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "149" xsd:string |
| dcterms:identifier | "1000596" xsd:string |
| hasExactSynonym | "Hemiconvulsion hemiplegia epilepsy syndrome" @en |
| hasExactSynonym | "One side convulsions, hemiplegia - epilepsy syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/149-201704-kojin.pdf |
| rdfs:label | "片側痙攣・片麻痺・てんかん症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019485 |
| http://nanbyodata.jp/ontology/nanbyo#1000597 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "150" xsd:string |
| dcterms:identifier | "1000597" xsd:string |
| hasExactSynonym | "Ring chromosome 20 epilepsy syndrome" @en |
| hasExactSynonym | "Ring chromosome 20 syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/150-201704-kojin.pdf |
| rdfs:label | "環状20番染色体症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015436 |
| http://nanbyodata.jp/ontology/nanbyo#1000598 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "151" xsd:string |
| dcterms:identifier | "1000598" xsd:string |
| hasExactSynonym | "Rasmussen encephalitis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/151-201704-kojin.pdf |
| rdfs:label | "ラスムッセン脳炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016019 |
| http://nanbyodata.jp/ontology/nanbyo#1000599 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "152" xsd:string |
| dcterms:identifier | "1000599" xsd:string |
| hasExactSynonym | "Epilepsy and mental retardation limited to females" @en |
| hasExactSynonym | "PCDH19 Epilepsy" @en |
| hasExactSynonym | "PCDH19 related syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/152-201704-kojin.pdf |
| rdfs:label | "ＰＣＤＨ19関連症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010246 |
| http://nanbyodata.jp/ontology/nanbyo#1000600 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "153" xsd:string |
| dcterms:identifier | "1000600" xsd:string |
| hasExactSynonym | "Acute encephalitis with refractory, repetitive partial seizures" @en |
| hasExactSynonym | "Refractory frequent partial seizures intussusception acute encephalitis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/153-201704-kojin.pdf |
| rdfs:label | "難治頻回部分発作重積型急性脳炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015584 |
| http://nanbyodata.jp/ontology/nanbyo#1000601 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "154" xsd:string |
| dcterms:identifier | "1000601" xsd:string |
| hasExactSynonym | "Epilepsy with continuous spikes and waves during slow sleep" @en |
| hasExactSynonym | "Epileptic encephalopathy with continuous spike-and-wave during sleep" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/154-201704-kojin.pdf |
| rdfs:label | "徐波睡眠期持続性棘徐波を示すてんかん性脳症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000602 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "155" xsd:string |
| dcterms:identifier | "1000602" xsd:string |
| hasExactSynonym | "Acquired aphasia with convulsive disorder" @en |
| hasExactSynonym | "Landau-Kleffner syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/155-201704-kojin.pdf |
| rdfs:label | "ランドウ・クレフナー症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009509 |
| http://nanbyodata.jp/ontology/nanbyo#1000603 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "156" xsd:string |
| dcterms:identifier | "1000603" xsd:string |
| hasExactSynonym | "Rett syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/156-201704-kojin.pdf |
| rdfs:label | "レット症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010726 |
| http://nanbyodata.jp/ontology/nanbyo#1000605 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "156" xsd:string |
| dcterms:identifier | "1000605" xsd:string |
| hasExactSynonym | "Atypical Rett syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/156-201704-kojin.pdf |
| rdfs:label | "非典型的レット症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000603 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017746 |
| http://nanbyodata.jp/ontology/nanbyo#1000606 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "157" xsd:string |
| dcterms:identifier | "1000606" xsd:string |
| hasExactSynonym | "Sturge-Weber syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/157-201704-kojin.pdf |
| rdfs:label | "スタージ・ウェーバー症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008501 |
| http://nanbyodata.jp/ontology/nanbyo#1000607 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "158" xsd:string |
| dcterms:identifier | "1000607" xsd:string |
| hasExactSynonym | "Tuberous sclerosis" @en |
| hasExactSynonym | "Tuberous sclerosis complex" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/158-201704-kojin.pdf |
| rdfs:label | "結節性硬化症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001734 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008612 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019341 |
| http://nanbyodata.jp/ontology/nanbyo#1000608 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "159" xsd:string |
| dcterms:identifier | "1000608" xsd:string |
| hasExactSynonym | "Xeroderma pigmentosum" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/159-201704-kojin.pdf |
| rdfs:label | "色素性乾皮症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000609 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "160" xsd:string |
| dcterms:identifier | "1000609" xsd:string |
| hasExactSynonym | "Congenital ichthyosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf |
| rdfs:label | "先天性魚鱗癬" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015947 |
| http://nanbyodata.jp/ontology/nanbyo#1000610 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "160" xsd:string |
| dcterms:identifier | "1000610" xsd:string |
| hasExactSynonym | "Keratinopathic ichthyosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf |
| rdfs:label | "ケラチン症性魚鱗癬" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000609 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017266 |
| http://nanbyodata.jp/ontology/nanbyo#1000611 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "160" xsd:string |
| dcterms:identifier | "1000611" xsd:string |
| hasExactSynonym | "Autosomal dominant epidermolytic ichthyosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf |
| rdfs:label | "常染色体優性表皮融解性魚鱗癬" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000610 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007239 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020702 |
| http://nanbyodata.jp/ontology/nanbyo#1000612 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "160" xsd:string |
| dcterms:identifier | "1000612" xsd:string |
| hasExactSynonym | "Autosomal recessive epidermolytic ichthyosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf |
| rdfs:label | "常染色体劣性表皮融解性魚鱗癬" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000610 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0044742 |
| http://nanbyodata.jp/ontology/nanbyo#1000613 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "160" xsd:string |
| dcterms:identifier | "1000613" xsd:string |
| hasExactSynonym | "Superficial epidermolytic ichthyosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf |
| rdfs:label | "表在性表皮融解性魚鱗癬" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000610 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007813 |
| http://nanbyodata.jp/ontology/nanbyo#1000614 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "160" xsd:string |
| dcterms:identifier | "1000614" xsd:string |
| hasExactSynonym | "Harlequin ichthyosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf |
| rdfs:label | "道化師様魚鱗癬" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000609 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009443 |
| http://nanbyodata.jp/ontology/nanbyo#1000615 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "160" xsd:string |
| dcterms:identifier | "1000615" xsd:string |
| hasExactSynonym | "Autosomal recessive congenital ichthyosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf |
| rdfs:label | "道化師様魚鱗癬以外の常染色体劣性遺伝性魚鱗癬" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000609 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017265 |
| http://nanbyodata.jp/ontology/nanbyo#1000616 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "160" xsd:string |
| dcterms:identifier | "1000616" xsd:string |
| hasExactSynonym | "Congenital Ichthyosiform Erythroderma" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf |
| rdfs:label | "先天性魚鱗癬様紅皮症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000615 |
| http://nanbyodata.jp/ontology/nanbyo#1000617 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "160" xsd:string |
| dcterms:identifier | "1000617" xsd:string |
| hasExactSynonym | "Lamellar ichthyosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf |
| rdfs:label | "葉状魚鱗癬" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000615 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017778 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019306 |
| http://nanbyodata.jp/ontology/nanbyo#1000618 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "160" xsd:string |
| dcterms:identifier | "1000618" xsd:string |
| hasExactSynonym | "Ichthyosis syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf |
| rdfs:label | "魚鱗癬症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000609 |
| http://nanbyodata.jp/ontology/nanbyo#1000619 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "160" xsd:string |
| dcterms:identifier | "1000619" xsd:string |
| hasExactSynonym | "Netherton syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf |
| rdfs:label | "ネザートン症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000618 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009735 |
| http://nanbyodata.jp/ontology/nanbyo#1000620 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "160" xsd:string |
| dcterms:identifier | "1000620" xsd:string |
| hasExactSynonym | "Sjogren-Larsson syndrome" @en |
| hasExactSynonym | "Sjögren-Larsson syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf |
| rdfs:label | "シェーグレン・ラルソン症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000618 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010031 |
| http://nanbyodata.jp/ontology/nanbyo#1000621 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "160" xsd:string |
| dcterms:identifier | "1000621" xsd:string |
| hasExactSynonym | "KID syndrome" @en |
| hasExactSynonym | "Keratitis-ichthyosis-deafness syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf |
| rdfs:label | "KID症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000618 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018781 |
| http://nanbyodata.jp/ontology/nanbyo#1000622 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "160" xsd:string |
| dcterms:identifier | "1000622" xsd:string |
| hasExactSynonym | "Chanarin-Dorfman Syndrome" @en |
| hasExactSynonym | "Dorfman-Chanarin syndrome" @en |
| hasExactSynonym | "Neutral lipid storage disease with ichthyosis" @en |
| hasExactSynonym | "中性脂肪蓄積症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf |
| rdfs:label | "ドルフマン・シャナリン症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000618 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010155 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015611 |
| http://nanbyodata.jp/ontology/nanbyo#1000623 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "160" xsd:string |
| dcterms:identifier | "1000623" xsd:string |
| hasExactSynonym | "Multiple sulfatase deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf |
| rdfs:label | "多発性スルファターゼ欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000618 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010088 |
| http://nanbyodata.jp/ontology/nanbyo#1000624 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "160" xsd:string |
| dcterms:identifier | "1000624" xsd:string |
| hasExactSynonym | "Recessive X-linked ichtyosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf |
| rdfs:label | "X連鎖性劣性魚鱗癬症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000618 |
| http://nanbyodata.jp/ontology/nanbyo#1000625 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "160" xsd:string |
| dcterms:identifier | "1000625" xsd:string |
| hasExactSynonym | "IBID" @en |
| hasExactSynonym | "ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf |
| rdfs:label | "IBID" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000618 |
| http://nanbyodata.jp/ontology/nanbyo#1000626 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "160" xsd:string |
| dcterms:identifier | "1000626" xsd:string |
| hasExactSynonym | "Trichothiodystrophy" @en |
| hasExactSynonym | "Trichothiodystrophy" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf |
| rdfs:label | "硫黄欠乏性毛髪発育異常症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000618 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002470 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018053 |
| http://nanbyodata.jp/ontology/nanbyo#1000627 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "160" xsd:string |
| dcterms:identifier | "1000627" xsd:string |
| hasExactSynonym | "Ichthyosis Follicularis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf |
| rdfs:label | "毛包性魚鱗癬" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000618 |
| http://nanbyodata.jp/ontology/nanbyo#1000628 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "160" xsd:string |
| dcterms:identifier | "1000628" xsd:string |
| hasExactSynonym | "CHILD syndrome" @en |
| hasExactSynonym | "congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf |
| rdfs:label | "CHILD症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000618 |
| http://nanbyodata.jp/ontology/nanbyo#1000629 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "160" xsd:string |
| dcterms:identifier | "1000629" xsd:string |
| hasExactSynonym | "Conradi Hunermann Happle syndrome" @en |
| hasExactSynonym | "Conradi Hünermann Happle syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf |
| rdfs:label | "Conradi-Hünermann-Happle 症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000618 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020603 |
| http://nanbyodata.jp/ontology/nanbyo#1000630 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "161" xsd:string |
| dcterms:identifier | "1000630" xsd:string |
| hasExactSynonym | "Benign familial pemphigus" @en |
| hasExactSynonym | "Familial benign chronic pemphigus" @en |
| hasExactSynonym | "Hailey-Hailey disease" @en |
| hasExactSynonym | "ヘイリー・ヘイリー病" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/161-201704-kojin.pdf |
| rdfs:label | "家族性良性慢性天疱瘡" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008218 |
| http://nanbyodata.jp/ontology/nanbyo#1000631 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "162" xsd:string |
| dcterms:identifier | "1000631" xsd:string |
| hasExactSynonym | "Pemphigoid" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/162-201704-kojin.pdf |
| rdfs:label | "類天疱瘡" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019082 |
| http://nanbyodata.jp/ontology/nanbyo#1000632 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "162" xsd:string |
| dcterms:identifier | "1000632" xsd:string |
| hasExactSynonym | "Epidermolysis bullosa acquisita" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/162-201704-kojin.pdf |
| rdfs:label | "後天性表皮水疱症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000631 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018747 |
| http://nanbyodata.jp/ontology/nanbyo#1000633 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "163" xsd:string |
| dcterms:identifier | "1000633" xsd:string |
| hasExactSynonym | "Acquired idiopathic generalized anhidrosis" @en |
| hasExactSynonym | "Idiopathic acquired systemic anhidrosis" @en |
| hasExactSynonym | "Idiopathic pure sudomotor failure" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/163-201704-kojin.pdf |
| rdfs:label | "特発性後天性全身性無汗症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000634 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
| has_notification_number | "164" xsd:string |
| dcterms:identifier | "1000634" xsd:string |
| hasExactSynonym | "Oculocutaneous albinism" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/164-201704-kojin.pdf |
| rdfs:label | "眼皮膚白皮症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018910 |
| http://nanbyodata.jp/ontology/nanbyo#1000635 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
| has_notification_number | "164" xsd:string |
| dcterms:identifier | "1000635" xsd:string |
| hasExactSynonym | "Hermansky-Pudlak syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/164-201704-kojin.pdf |
| rdfs:label | "ヘルマンスキー・パドラック症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000634 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019312 |
| http://nanbyodata.jp/ontology/nanbyo#1000636 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
| has_notification_number | "164" xsd:string |
| dcterms:identifier | "1000636" xsd:string |
| hasExactSynonym | "Chédiak-Higashi syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/164-201704-kojin.pdf |
| rdfs:label | "チェディアック・東症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000634 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008963 |
| http://nanbyodata.jp/ontology/nanbyo#1000637 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
| has_notification_number | "164" xsd:string |
| dcterms:identifier | "1000637" xsd:string |
| hasExactSynonym | "Griscelli syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/164-201704-kojin.pdf |
| rdfs:label | "グリセリ症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000634 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018306 |
| http://nanbyodata.jp/ontology/nanbyo#1000638 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
| has_notification_number | "164" xsd:string |
| dcterms:identifier | "1000638" xsd:string |
| hasExactSynonym | "non-syndromic oculocutaneous albinism" @en |
| hasExactSynonym | "非症候性眼皮膚白皮症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/164-201704-kojin.pdf |
| rdfs:label | "非症候型の眼皮膚白皮症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000634 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018910 |
| http://nanbyodata.jp/ontology/nanbyo#1000639 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "165" xsd:string |
| dcterms:identifier | "1000639" xsd:string |
| hasExactSynonym | "Pachydermoperiostosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/165-201704-kojin.pdf |
| rdfs:label | "肥厚性皮膚骨膜症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009799 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016620 |
| http://nanbyodata.jp/ontology/nanbyo#1000640 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "166" xsd:string |
| dcterms:identifier | "1000640" xsd:string |
| hasExactSynonym | "Pseudoxanthoma elasticum" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/166-201704-kojin.pdf |
| rdfs:label | "弾性線維性仮性黄色腫" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009925 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0024308 |
| http://nanbyodata.jp/ontology/nanbyo#1000641 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "167" xsd:string |
| dcterms:identifier | "1000641" xsd:string |
| hasExactSynonym | "Marfan syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/167-201704-kojin.pdf |
| rdfs:label | "マルファン症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007947 |
| http://nanbyodata.jp/ontology/nanbyo#1000642 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "168" xsd:string |
| dcterms:identifier | "1000642" xsd:string |
| hasExactSynonym | "Ehlers-Danlos Syndrome" @en |
| rdfs:isDefinedBy | file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl |
| rdfs:label | "エーラス・ダンロス症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020066 |
| http://nanbyodata.jp/ontology/nanbyo#1000643 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "168" xsd:string |
| dcterms:identifier | "1000643" xsd:string |
| hasExactSynonym | "Ehlers-Danlos Syndrome (Classical type)" @en |
| hasExactSynonym | "Ehlers-Danlos syndrome, classic type" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/168-01-201704-kojin.pdf |
| rdfs:label | "古典型エーラス・ダンロス症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000642 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007522 |
| http://nanbyodata.jp/ontology/nanbyo#1000644 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "168" xsd:string |
| dcterms:identifier | "1000644" xsd:string |
| hasExactSynonym | "Ehlers-Danlos Syndrome (Hypermobility type)" @en |
| hasExactSynonym | "Ehlers-Danlos syndrome, hypermobility type" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/168-02-201704-kojin.pdf |
| rdfs:label | "関節型エーラス・ダンロス症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000642 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007523 |
| http://nanbyodata.jp/ontology/nanbyo#1000645 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "168" xsd:string |
| dcterms:identifier | "1000645" xsd:string |
| hasExactSynonym | "Ehlers-Danlos Syndrome (Vascular type)" @en |
| hasExactSynonym | "Ehlers-Danlos syndrome, vascular type" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/168-03-201704-kojin.pdf |
| rdfs:label | "血管型エーラス・ダンロス症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000642 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007524 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017314 |
| http://nanbyodata.jp/ontology/nanbyo#1000646 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "168" xsd:string |
| dcterms:identifier | "1000646" xsd:string |
| hasExactSynonym | "Ehlers-Danlos Syndrome (Kyphoscoliosis tyep)" @en |
| hasExactSynonym | "Ehlers-Danlos syndrome, kyphoscoliotic type" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/168-04-201704-kojin.pdf |
| rdfs:label | "後側彎型エーラス・ダンロス症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000642 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016002 |
| http://nanbyodata.jp/ontology/nanbyo#1000647 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "168" xsd:string |
| dcterms:identifier | "1000647" xsd:string |
| hasExactSynonym | "Ehlers-Danlos Syndrome (Arthrochalasia type)" @en |
| hasExactSynonym | "Ehlers-Danlos syndrome, arthrochalasis type" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/168-05-201704-kojin.pdf |
| rdfs:label | "多発関節弛緩型エーラス・ダンロス症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000642 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007525 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009159 |
| http://nanbyodata.jp/ontology/nanbyo#1000648 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "168" xsd:string |
| dcterms:identifier | "1000648" xsd:string |
| hasExactSynonym | "Ehlers-Danlos Syndrome (Dermatosparaxis type)" @en |
| hasExactSynonym | "Ehlers-Danlos syndrome, dermatosparaxis type" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/168-06-201704-kojin.pdf |
| rdfs:label | "皮膚脆弱型エーラス・ダンロス症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000642 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009161 |
| http://nanbyodata.jp/ontology/nanbyo#1000649 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "168" xsd:string |
| dcterms:identifier | "1000649" xsd:string |
| hasExactSynonym | "Dermatan 4-O-sulfotransferase 1 Deficient Ehlers-Danlos Syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/168-07-201704-kojin.pdf |
| rdfs:label | "デルマタン4-O-硫酸基転移酵素-1欠損型エーラス・ダンロス症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000642 |
| http://nanbyodata.jp/ontology/nanbyo#1000650 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "169" xsd:string |
| dcterms:identifier | "1000650" xsd:string |
| hasExactSynonym | "Menkes disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/169-201704-kojin.pdf |
| rdfs:label | "メンケス病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010651 |
| http://nanbyodata.jp/ontology/nanbyo#1000651 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000004 |
| has_notification_number | "170" xsd:string |
| dcterms:identifier | "1000651" xsd:string |
| hasExactSynonym | "Occipital horn syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/170-201704-kojin.pdf |
| rdfs:label | "オクシピタル・ホーン症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010572 |
| http://nanbyodata.jp/ontology/nanbyo#1000652 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "171" xsd:string |
| dcterms:identifier | "1000652" xsd:string |
| hasExactSynonym | "Wilson disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/171-201704-kojin.pdf |
| rdfs:label | "ウィルソン病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010200 |
| http://nanbyodata.jp/ontology/nanbyo#1000653 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000009 |
| has_notification_number | "172" xsd:string |
| dcterms:identifier | "1000653" xsd:string |
| hasExactSynonym | "Hypophosphatasia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/172-201704-kojin.pdf |
| rdfs:label | "低ホスファターゼ症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018570 |
| http://nanbyodata.jp/ontology/nanbyo#1000654 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "173" xsd:string |
| dcterms:identifier | "1000654" xsd:string |
| hasExactSynonym | "VATER association" @en |
| hasExactSynonym | "VATER syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/173-201704-kojin.pdf |
| rdfs:label | "VATER症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008642 |
| http://nanbyodata.jp/ontology/nanbyo#1000655 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "174" xsd:string |
| dcterms:identifier | "1000655" xsd:string |
| hasExactSynonym | "Nasu-Hakola disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/174-201704-kojin.pdf |
| rdfs:label | "那須・ハコラ病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009092 |
| http://nanbyodata.jp/ontology/nanbyo#1000656 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "175" xsd:string |
| dcterms:identifier | "1000656" xsd:string |
| hasExactSynonym | "Weaver syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/175-201704-kojin.pdf |
| rdfs:label | "ウィーバー症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010193 |
| http://nanbyodata.jp/ontology/nanbyo#1000657 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "176" xsd:string |
| dcterms:identifier | "1000657" xsd:string |
| hasExactSynonym | "Coffin-Lowry syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/176-201704-kojin.pdf |
| rdfs:label | "コフィン・ローリー症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010561 |
| http://nanbyodata.jp/ontology/nanbyo#1000658 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "177" xsd:string |
| dcterms:identifier | "1000658" xsd:string |
| hasExactSynonym | "Cerebro-oculo-hepato-renal syndrome" @en |
| hasExactSynonym | "Joubert Syndrome and related disorders" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/177-201804-kojin.pdf |
| rdfs:label | "ジュベール疾患群関連疾患" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009480 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015369 |
| http://nanbyodata.jp/ontology/nanbyo#1000659 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "177" xsd:string |
| dcterms:identifier | "1000659" xsd:string |
| hasExactSynonym | "Arima syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/177-201804-kojin.pdf |
| rdfs:label | "有馬症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000658 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009480 |
| http://nanbyodata.jp/ontology/nanbyo#1000660 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "177" xsd:string |
| dcterms:identifier | "1000660" xsd:string |
| hasExactSynonym | "Cerebro-oculo-hepato-renal syndrome" @en |
| hasExactSynonym | "Joubert Syndrome and related disorders" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/177-201804-kojin.pdf |
| rdfs:label | "ジュベール疾患群関連疾患" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000658 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009480 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015369 |
| http://nanbyodata.jp/ontology/nanbyo#1000661 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "178" xsd:string |
| dcterms:identifier | "1000661" xsd:string |
| hasExactSynonym | "Mowat-Wilson syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/178-201704-kojin.pdf |
| rdfs:label | "モワット・ウィルソン症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009341 |
| http://nanbyodata.jp/ontology/nanbyo#1000662 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "179" xsd:string |
| dcterms:identifier | "1000662" xsd:string |
| hasExactSynonym | "Williams syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/179-201704-kojin.pdf |
| rdfs:label | "ウィリアムズ症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008678 |
| http://nanbyodata.jp/ontology/nanbyo#1000663 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "180" xsd:string |
| dcterms:identifier | "1000663" xsd:string |
| hasExactSynonym | "ATR-X syndrome" @en |
| hasExactSynonym | "Alpha-thalassemia mental retardation syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/180-201704-kojin.pdf |
| rdfs:label | "ＡＴＲ−Ｘ症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007716 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010519 |
| http://nanbyodata.jp/ontology/nanbyo#1000664 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "181" xsd:string |
| dcterms:identifier | "1000664" xsd:string |
| hasExactSynonym | "Crouzon syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/181-201704-kojin.pdf |
| rdfs:label | "クルーゾン症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007405 |
| http://nanbyodata.jp/ontology/nanbyo#1000665 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "182" xsd:string |
| dcterms:identifier | "1000665" xsd:string |
| hasExactSynonym | "Apert syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/182-201704-kojin.pdf |
| rdfs:label | "アペール症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007041 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019796 |
| http://nanbyodata.jp/ontology/nanbyo#1000666 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "183" xsd:string |
| dcterms:identifier | "1000666" xsd:string |
| hasExactSynonym | "Pfeiffer syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/183-201704-kojin.pdf |
| rdfs:label | "ファイファー症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005810 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007043 |
| http://nanbyodata.jp/ontology/nanbyo#1000667 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "184" xsd:string |
| dcterms:identifier | "1000667" xsd:string |
| hasExactSynonym | "Antley-Bixler syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/184-201704-kojin.pdf |
| rdfs:label | "アントレー・ビクスラー症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008803 |
| http://nanbyodata.jp/ontology/nanbyo#1000668 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "185" xsd:string |
| dcterms:identifier | "1000668" xsd:string |
| hasExactSynonym | "Coffin-Siris Syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/185-201704-kojin.pdf |
| rdfs:label | "コフィン・シリス症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015452 |
| http://nanbyodata.jp/ontology/nanbyo#1000669 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "186" xsd:string |
| dcterms:identifier | "1000669" xsd:string |
| hasExactSynonym | "Rothmund-Thomson syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/186-201704-kojin.pdf |
| rdfs:label | "ロスムンド・トムソン症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010002 |
| http://nanbyodata.jp/ontology/nanbyo#1000670 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "187" xsd:string |
| dcterms:identifier | "1000670" xsd:string |
| hasExactSynonym | "Kabuki syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/187-201704-kojin.pdf |
| rdfs:label | "歌舞伎症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007843 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016512 |
| http://nanbyodata.jp/ontology/nanbyo#1000671 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "188" xsd:string |
| dcterms:identifier | "1000671" xsd:string |
| hasExactSynonym | "Polysplenia syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/188-201704-kojin.pdf |
| rdfs:label | "多脾症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008832 |
| http://nanbyodata.jp/ontology/nanbyo#1000672 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "189" xsd:string |
| dcterms:identifier | "1000672" xsd:string |
| hasExactSynonym | "Asplenia syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/189-201704-kojin.pdf |
| rdfs:label | "無脾症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008832 |
| http://nanbyodata.jp/ontology/nanbyo#1000673 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000013 |
| has_notification_number | "190" xsd:string |
| dcterms:identifier | "1000673" xsd:string |
| hasExactSynonym | "BOR syndrome" @en |
| hasExactSynonym | "Branchio-oto-renal syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/190-201704-kojin.pdf |
| rdfs:label | "鰓耳腎症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007029 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018878 |
| http://nanbyodata.jp/ontology/nanbyo#1000674 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "191" xsd:string |
| dcterms:identifier | "1000674" xsd:string |
| hasExactSynonym | "Werner syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/191-201704-kojin.pdf |
| rdfs:label | "ウェルナー症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010196 |
| http://nanbyodata.jp/ontology/nanbyo#1000675 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "192" xsd:string |
| dcterms:identifier | "1000675" xsd:string |
| hasExactSynonym | "Cockayne syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/192-201704-kojin.pdf |
| rdfs:label | "コケイン症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016006 |
| http://nanbyodata.jp/ontology/nanbyo#1000676 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "193" xsd:string |
| dcterms:identifier | "1000676" xsd:string |
| hasExactSynonym | "Prader-Willi syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/193-201704-kojin.pdf |
| rdfs:label | "プラダー・ウィリ症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008300 |
| http://nanbyodata.jp/ontology/nanbyo#1000677 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "194" xsd:string |
| dcterms:identifier | "1000677" xsd:string |
| hasExactSynonym | "Sotos syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/194-201704-kojin.pdf |
| rdfs:label | "ソトス症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007299 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019349 |
| http://nanbyodata.jp/ontology/nanbyo#1000678 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "195" xsd:string |
| dcterms:identifier | "1000678" xsd:string |
| hasExactSynonym | "Noonan syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/195-201704-kojin.pdf |
| rdfs:label | "ヌーナン症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008104 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018997 |
| http://nanbyodata.jp/ontology/nanbyo#1000679 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "196" xsd:string |
| dcterms:identifier | "1000679" xsd:string |
| hasExactSynonym | "Young-Simpson syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/196-201704-kojin.pdf |
| rdfs:label | "ヤング・シンプソン症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011365 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017393 |
| http://nanbyodata.jp/ontology/nanbyo#1000680 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "197" xsd:string |
| dcterms:identifier | "1000680" xsd:string |
| hasExactSynonym | "1p36 deletion syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/197-201704-kojin.pdf |
| rdfs:label | "１ｐ36欠失症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011929 |
| http://nanbyodata.jp/ontology/nanbyo#1000681 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "198" xsd:string |
| dcterms:identifier | "1000681" xsd:string |
| hasExactSynonym | "4p deletion syndrome" @en |
| hasExactSynonym | "4p-syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/198-201704-kojin.pdf |
| rdfs:label | "４p欠失症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008684 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0022762 |
| http://nanbyodata.jp/ontology/nanbyo#1000682 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "199" xsd:string |
| dcterms:identifier | "1000682" xsd:string |
| hasExactSynonym | "5p deletion syndrome" @en |
| hasExactSynonym | "5p-syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/199-201704-kojin.pdf |
| rdfs:label | "５p欠失症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007404 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008297 |
| http://nanbyodata.jp/ontology/nanbyo#1000683 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "200" xsd:string |
| dcterms:identifier | "1000683" xsd:string |
| hasExactSynonym | "Kagami-Ogata syndrome" @en |
| hasExactSynonym | "No. 14 chromosome father disomy syndrome" @en |
| hasExactSynonym | "Paternal uniparental disomy of chromosome 14" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/200-201704-kojin.pdf |
| rdfs:label | "第14番染色体父親性ダイソミー症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011975 |
| http://nanbyodata.jp/ontology/nanbyo#1000684 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "201" xsd:string |
| dcterms:identifier | "1000684" xsd:string |
| hasExactSynonym | "Angelman syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/201-201704-kojin.pdf |
| rdfs:label | "アンジェルマン症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007113 |
| http://nanbyodata.jp/ontology/nanbyo#1000685 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "202" xsd:string |
| dcterms:identifier | "1000685" xsd:string |
| hasExactSynonym | "Smith-Magenis syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/202-201704-kojin.pdf |
| rdfs:label | "スミス・マギニス症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008434 |
| http://nanbyodata.jp/ontology/nanbyo#1000686 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "203" xsd:string |
| dcterms:identifier | "1000686" xsd:string |
| hasExactSynonym | "22q11.2 deletion syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/203-201704-kojin.pdf |
| rdfs:label | "22q11.2欠失症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008564 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018923 |
| http://nanbyodata.jp/ontology/nanbyo#1000687 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "204" xsd:string |
| dcterms:identifier | "1000687" xsd:string |
| hasExactSynonym | "Emanuel syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/204-201704-kojin.pdf |
| rdfs:label | "エマヌエル症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012176 |
| http://nanbyodata.jp/ontology/nanbyo#1000688 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "205" xsd:string |
| dcterms:identifier | "1000688" xsd:string |
| hasExactSynonym | "Fragile X syndrome related diseases" @en |
| hasExactSynonym | "Fragile X-associated tremor/ataxia syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/205-201704-kojin.pdf |
| rdfs:label | "脆弱Ｘ症候群関連疾患" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010382 |
| http://nanbyodata.jp/ontology/nanbyo#1000689 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "205" xsd:string |
| dcterms:identifier | "1000689" xsd:string |
| hasExactSynonym | "FXTAS" @en |
| hasExactSynonym | "Fragile X tremor/ataxia syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/205-201704-kojin.pdf |
| rdfs:label | "脆弱 X 随伴振戦/失調症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000688 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010382 |
| http://nanbyodata.jp/ontology/nanbyo#1000690 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "206" xsd:string |
| dcterms:identifier | "1000690" xsd:string |
| hasExactSynonym | "Fragile X syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/206-201704-kojin.pdf |
| rdfs:label | "脆弱X症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010383 |
| http://nanbyodata.jp/ontology/nanbyo#1000691 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "207" xsd:string |
| dcterms:identifier | "1000691" xsd:string |
| hasExactSynonym | "Persistent truncus arteriosus" @en |
| hasExactSynonym | "Truncus arteriosus communis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/207-201704-kojin.pdf |
| rdfs:label | "総動脈幹遺残症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016581 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018072 |
| http://nanbyodata.jp/ontology/nanbyo#1000692 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "207" xsd:string |
| dcterms:identifier | "1000692" xsd:string |
| hasExactSynonym | "Truncus arteriosus communis type I" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/207-201704-kojin.pdf |
| rdfs:label | "総動脈幹遺残症（Ⅰ型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000691 |
| http://nanbyodata.jp/ontology/nanbyo#1000693 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "207" xsd:string |
| dcterms:identifier | "1000693" xsd:string |
| hasExactSynonym | "Truncus arteriosus communis type II" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/207-201704-kojin.pdf |
| rdfs:label | "総動脈幹遺残症（Ⅱ型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000691 |
| http://nanbyodata.jp/ontology/nanbyo#1000694 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "207" xsd:string |
| dcterms:identifier | "1000694" xsd:string |
| hasExactSynonym | "Truncus arteriosus communis type III" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/207-201704-kojin.pdf |
| rdfs:label | "総動脈幹遺残症（Ⅲ型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000691 |
| http://nanbyodata.jp/ontology/nanbyo#1000695 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "207" xsd:string |
| dcterms:identifier | "1000695" xsd:string |
| hasExactSynonym | "Truncus arteriosus communis type Ⅳ" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/207-201704-kojin.pdf |
| rdfs:label | "総動脈幹遺残症（Ⅳ型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000691 |
| http://nanbyodata.jp/ontology/nanbyo#1000696 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "208" xsd:string |
| dcterms:identifier | "1000696" xsd:string |
| hasExactSynonym | "Corrected transposition of the great arteries" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/208-201704-kojin.pdf |
| rdfs:label | "修正大血管転位症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000697 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "209" xsd:string |
| dcterms:identifier | "1000697" xsd:string |
| hasExactSynonym | "Complete TGA" @en |
| hasExactSynonym | "Complete transposition of the great arteries" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/209-201704-kojin.pdf |
| rdfs:label | "完全大血管転位症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000698 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "209" xsd:string |
| dcterms:identifier | "1000698" xsd:string |
| hasExactSynonym | "Complete transposition of the great arteries (Group1)" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/209-201704-kojin.pdf |
| rdfs:label | "完全大血管転位症（Ⅰ型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000697 |
| http://nanbyodata.jp/ontology/nanbyo#1000699 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "209" xsd:string |
| dcterms:identifier | "1000699" xsd:string |
| hasExactSynonym | "Complete transposition of the great arteries (Group2)" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/209-201704-kojin.pdf |
| rdfs:label | "完全大血管転位症（Ⅱ型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000697 |
| http://nanbyodata.jp/ontology/nanbyo#1000700 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "209" xsd:string |
| dcterms:identifier | "1000700" xsd:string |
| hasExactSynonym | "Complete transposition of the great arteries (Group3)" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/209-201704-kojin.pdf |
| rdfs:label | "完全大血管転位症（Ⅲ型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000697 |
| http://nanbyodata.jp/ontology/nanbyo#1000701 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "209" xsd:string |
| dcterms:identifier | "1000701" xsd:string |
| hasExactSynonym | "Complete transposition of the great arteries (Group4)" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/209-201704-kojin.pdf |
| rdfs:label | "完全大血管転位症（Ⅳ型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000697 |
| http://nanbyodata.jp/ontology/nanbyo#1000702 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "210" xsd:string |
| dcterms:identifier | "1000702" xsd:string |
| hasExactSynonym | "Single ventricle heart defect" @en |
| hasExactSynonym | "Univentricular heart" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/210-201704-kojin.pdf |
| rdfs:label | "単心室症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015451 |
| http://nanbyodata.jp/ontology/nanbyo#1000703 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "211" xsd:string |
| dcterms:identifier | "1000703" xsd:string |
| hasExactSynonym | "Hypoplastic left heart syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/211-201704-kojin.pdf |
| rdfs:label | "左心低形成症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0004933 |
| http://nanbyodata.jp/ontology/nanbyo#1000704 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "212" xsd:string |
| dcterms:identifier | "1000704" xsd:string |
| hasExactSynonym | "Tricuspid atresia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/212-201704-kojin.pdf |
| rdfs:label | "三尖弁閉鎖症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011514 |
| http://nanbyodata.jp/ontology/nanbyo#1000705 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "213" xsd:string |
| dcterms:identifier | "1000705" xsd:string |
| hasExactSynonym | "Pulmonary atresia with intact ventricular septum" @en |
| hasExactSynonym | "Pulmonary atresia without ventricular septum defect" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/213-201704-kojin.pdf |
| rdfs:label | "心室中隔欠損を伴わない肺動脈閉鎖症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009931 |
| http://nanbyodata.jp/ontology/nanbyo#1000706 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "214" xsd:string |
| dcterms:identifier | "1000706" xsd:string |
| hasExactSynonym | "Pulmonary atresia with ventricular septal defect" @en |
| hasExactSynonym | "Pulmonary atresia with ventricular septum defect" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/214-201704-kojin.pdf |
| rdfs:label | "心室中隔欠損を伴う肺動脈閉鎖症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008343 |
| http://nanbyodata.jp/ontology/nanbyo#1000707 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "215" xsd:string |
| dcterms:identifier | "1000707" xsd:string |
| hasExactSynonym | "Tetralogy of Fallot" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/215-201704-kojin.pdf |
| rdfs:label | "ファロー四徴症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008542 |
| http://nanbyodata.jp/ontology/nanbyo#1000708 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "216" xsd:string |
| dcterms:identifier | "1000708" xsd:string |
| hasExactSynonym | "Double outlet right ventricle" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/216-201704-kojin.pdf |
| rdfs:label | "両大血管右室起始症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016581 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018089 |
| http://nanbyodata.jp/ontology/nanbyo#1000709 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "217" xsd:string |
| dcterms:identifier | "1000709" xsd:string |
| hasExactSynonym | "Ebstein disease" @en |
| hasExactSynonym | "Ebstein malformation" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/217-201704-kojin.pdf |
| rdfs:label | "エプスタイン病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009144 |
| http://nanbyodata.jp/ontology/nanbyo#1000710 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "218" xsd:string |
| dcterms:identifier | "1000710" xsd:string |
| hasExactSynonym | "Alport syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/218-201704-kojin.pdf |
| rdfs:label | "アルポート症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018965 |
| http://nanbyodata.jp/ontology/nanbyo#1000711 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "219" xsd:string |
| dcterms:identifier | "1000711" xsd:string |
| hasExactSynonym | "Galloway-Mowat syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/219-201704-kojin.pdf |
| rdfs:label | "ギャロウェイ・モワト症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009627 |
| http://nanbyodata.jp/ontology/nanbyo#1000712 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "220" xsd:string |
| dcterms:identifier | "1000712" xsd:string |
| hasExactSynonym | "PR3-ANCA positive rapidly progressive glomerulonephritis" @en |
| hasExactSynonym | "crescentic glomerulonephritis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/220-201704-kojin.pdf |
| rdfs:label | "急速進行性糸球体腎炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001645 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017236 |
| http://nanbyodata.jp/ontology/nanbyo#1000713 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "220" xsd:string |
| dcterms:identifier | "1000713" xsd:string |
| hasExactSynonym | "MPO-ANCA associated crescentic glomerulonephritis" @en |
| hasExactSynonym | "MPO-ANCA positive rapidly progressive glomerulonephritis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/220-201704-kojin.pdf |
| rdfs:label | "急速進行性糸球体腎炎（MPO-ANCA陽性）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000712 |
| http://nanbyodata.jp/ontology/nanbyo#1000714 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "220" xsd:string |
| dcterms:identifier | "1000714" xsd:string |
| hasExactSynonym | "Rapidly progressive glomerulonephritis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/220-201704-kojin.pdf |
| rdfs:label | "急速進行性糸球体腎炎（PR3-ANCA陽性）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000712 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017236 |
| http://nanbyodata.jp/ontology/nanbyo#1000715 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "220" xsd:string |
| dcterms:identifier | "1000715" xsd:string |
| hasExactSynonym | "Anti-GBM rapidly progressive glomerulonephritis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/220-201704-kojin.pdf |
| rdfs:label | "急速進行性糸球体腎炎（抗GBM抗体陽性）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000712 |
| http://nanbyodata.jp/ontology/nanbyo#1000716 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "221" xsd:string |
| dcterms:identifier | "1000716" xsd:string |
| hasExactSynonym | "Anti-glomerular basement membrane disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/221-201704-kojin.pdf |
| rdfs:label | "抗糸球体基底膜腎炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009303 |
| http://nanbyodata.jp/ontology/nanbyo#1000717 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "222" xsd:string |
| dcterms:identifier | "1000717" xsd:string |
| hasExactSynonym | "Primary nephrotic syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/222-201704-kojin.pdf |
| rdfs:label | "一次性ネフローゼ症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000718 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "222" xsd:string |
| dcterms:identifier | "1000718" xsd:string |
| hasExactSynonym | "MCNS" @en |
| hasExactSynonym | "Minimal change nephrotic syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/222-201704-kojin.pdf |
| rdfs:label | "微小変化型ネフローゼ症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000717 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0006835 |
| http://nanbyodata.jp/ontology/nanbyo#1000719 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "222" xsd:string |
| dcterms:identifier | "1000719" xsd:string |
| hasExactSynonym | "Membranous nephropathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/222-201704-kojin.pdf |
| rdfs:label | "膜性腎症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000717 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005376 |
| http://nanbyodata.jp/ontology/nanbyo#1000720 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "222" xsd:string |
| dcterms:identifier | "1000720" xsd:string |
| hasExactSynonym | "FSGS" @en |
| hasExactSynonym | "Focal segmental glomerulosclerosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/222-201704-kojin.pdf |
| rdfs:label | "巣状分節性糸球体硬化症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000717 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005363 |
| http://nanbyodata.jp/ontology/nanbyo#1000721 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "222" xsd:string |
| dcterms:identifier | "1000721" xsd:string |
| hasExactSynonym | "Crescentic Glomerulonephritis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/222-201704-kojin.pdf |
| rdfs:label | "半月体形成性糸球体腎炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000717 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001645 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017236 |
| http://nanbyodata.jp/ontology/nanbyo#1000722 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "222" xsd:string |
| dcterms:identifier | "1000722" xsd:string |
| hasExactSynonym | "Endocapillary proliferative glomerulonephritis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/222-201704-kojin.pdf |
| rdfs:label | "管内増殖性糸球体腎炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000717 |
| http://nanbyodata.jp/ontology/nanbyo#1000723 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "223" xsd:string |
| dcterms:identifier | "1000723" xsd:string |
| hasExactSynonym | "Primary membranoproliferative glomerulonephritis" @en |
| hasExactSynonym | "坂口分類（https://www.jstage.jst.go.jp/article/jpnjnephrol1959/26/6/26_6_671/_pdf/-char/ja）" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/223-201704-kojin.pdf |
| rdfs:label | "一次性膜性増殖性糸球体腎炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018904 |
| http://nanbyodata.jp/ontology/nanbyo#1000724 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "223" xsd:string |
| dcterms:identifier | "1000724" xsd:string |
| hasExactSynonym | "MPGN typeⅠ" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/223-201704-kojin.pdf |
| rdfs:label | "一次性膜性増殖性糸球体腎炎Ⅰ型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000723 |
| http://nanbyodata.jp/ontology/nanbyo#1000725 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "223" xsd:string |
| dcterms:identifier | "1000725" xsd:string |
| hasExactSynonym | "mesangial proliferative GN,slight" @en |
| hasExactSynonym | "post MPGN" @en |
| hasExactSynonym | "メサンギウム細胞増殖性糸球体腎炎 1a型" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/223-201704-kojin.pdf |
| rdfs:label | "メサンギウム細胞軽度増殖性糸球体腎炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000724 |
| http://nanbyodata.jp/ontology/nanbyo#1000726 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "223" xsd:string |
| dcterms:identifier | "1000726" xsd:string |
| hasExactSynonym | "mesangial proliferative GN,moderate" @en |
| hasExactSynonym | "pre MPGN" @en |
| hasExactSynonym | "メサンギウム細胞増殖性糸球体腎炎 1b型" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/223-201704-kojin.pdf |
| rdfs:label | "中等度メサンギウム細胞増殖性糸球体腎炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000724 |
| http://nanbyodata.jp/ontology/nanbyo#1000727 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "223" xsd:string |
| dcterms:identifier | "1000727" xsd:string |
| hasExactSynonym | "MPGN typeⅠ,chronic,focal" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/223-201704-kojin.pdf |
| rdfs:label | "慢性・巣状型膜性増殖性糸球体腎炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000724 |
| http://nanbyodata.jp/ontology/nanbyo#1000728 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "223" xsd:string |
| dcterms:identifier | "1000728" xsd:string |
| hasExactSynonym | "MPGN typeⅠ,acute,focal" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/223-201704-kojin.pdf |
| rdfs:label | "急性・巣状型膜性増殖性糸球体腎炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000724 |
| http://nanbyodata.jp/ontology/nanbyo#1000729 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "223" xsd:string |
| dcterms:identifier | "1000729" xsd:string |
| hasExactSynonym | "MPGN typeⅠ,chronic diffuse,slight" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/223-201704-kojin.pdf |
| rdfs:label | "慢性・びまん型膜性増殖性糸球体腎炎 4a型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000724 |
| http://nanbyodata.jp/ontology/nanbyo#1000730 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "223" xsd:string |
| dcterms:identifier | "1000730" xsd:string |
| hasExactSynonym | "MPGN typeⅠ,chronic diffuse,non-lobular" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/223-201704-kojin.pdf |
| rdfs:label | "慢性・びまん型膜性増殖性糸球体腎炎 4b型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000724 |
| http://nanbyodata.jp/ontology/nanbyo#1000731 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "223" xsd:string |
| dcterms:identifier | "1000731" xsd:string |
| hasExactSynonym | "MPGN typeⅠ,chronic diffuse,moderate" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/223-201704-kojin.pdf |
| rdfs:label | "慢性・びまん型膜性増殖性糸球体腎炎 4c型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000724 |
| http://nanbyodata.jp/ontology/nanbyo#1000732 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "223" xsd:string |
| dcterms:identifier | "1000732" xsd:string |
| hasExactSynonym | "MPGN typeⅠ,acute diffuse,endocapillary" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/223-201704-kojin.pdf |
| rdfs:label | "急性・びまん型膜性増殖性糸球体腎炎 5a型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000724 |
| http://nanbyodata.jp/ontology/nanbyo#1000733 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "223" xsd:string |
| dcterms:identifier | "1000733" xsd:string |
| hasExactSynonym | "MPGN typeⅠ,acute diffuse,moderate" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/223-201704-kojin.pdf |
| rdfs:label | "急性・びまん型膜性増殖性糸球体腎炎 5b型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000724 |
| http://nanbyodata.jp/ontology/nanbyo#1000734 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "223" xsd:string |
| dcterms:identifier | "1000734" xsd:string |
| hasExactSynonym | "MPGN typeⅠ,acute diffuse,marked" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/223-201704-kojin.pdf |
| rdfs:label | "急性・びまん型膜性増殖性糸球体腎炎 5c型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000724 |
| http://nanbyodata.jp/ontology/nanbyo#1000735 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "223" xsd:string |
| dcterms:identifier | "1000735" xsd:string |
| hasExactSynonym | "MPGN typeⅠ,lobular" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/223-201704-kojin.pdf |
| rdfs:label | "分葉型膜性増殖性糸球体腎炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000724 |
| http://nanbyodata.jp/ontology/nanbyo#1000736 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "223" xsd:string |
| dcterms:identifier | "1000736" xsd:string |
| hasExactSynonym | "MPGN typeⅠ,end stage" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/223-201704-kojin.pdf |
| rdfs:label | "終末期型膜性増殖性糸球体腎炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000724 |
| http://nanbyodata.jp/ontology/nanbyo#1000737 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "223" xsd:string |
| dcterms:identifier | "1000737" xsd:string |
| hasExactSynonym | "MPGN typeⅡ" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/223-201704-kojin.pdf |
| rdfs:label | "一次性膜性増殖性糸球体腎炎Ⅱ型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000723 |
| http://nanbyodata.jp/ontology/nanbyo#1000738 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "223" xsd:string |
| dcterms:identifier | "1000738" xsd:string |
| hasExactSynonym | "MPGN typeⅢ" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/223-201704-kojin.pdf |
| rdfs:label | "一次性膜性増殖性糸球体腎炎Ⅲ型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000723 |
| http://nanbyodata.jp/ontology/nanbyo#1000739 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "224" xsd:string |
| dcterms:identifier | "1000739" xsd:string |
| hasExactSynonym | "Purpura nephritis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/224-201704-kojin.pdf |
| rdfs:label | "紫斑病性腎炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000740 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "225" xsd:string |
| dcterms:identifier | "1000740" xsd:string |
| hasExactSynonym | "Congenital nephrogenic diabetes insipidus" @en |
| hasExactSynonym | "Nephrogenic diabetes insipidus" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/225-201704-kojin.pdf |
| rdfs:label | "先天性腎性尿崩症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016383 |
| http://nanbyodata.jp/ontology/nanbyo#1000741 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "226" xsd:string |
| dcterms:identifier | "1000741" xsd:string |
| hasExactSynonym | "Interstitial cystitis" @en |
| hasExactSynonym | "Interstitial cystitis with Hunners ulcer" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/226-201704-kojin.pdf |
| rdfs:label | "間質性膀胱炎（ハンナ型）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000742 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "227" xsd:string |
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| hasExactSynonym | "Osler disease" @en |
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|---|---|
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| hasExactSynonym | "Bronchiolitis obliterans" @en |
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| rdfs:label | "閉塞性細気管支炎" @ja |
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|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
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| hasExactSynonym | "Congenital pulmonary alveolar proteinosis" @en |
| hasExactSynonym | "Hereditary pulmonary alveolar proteinosis" @en |
| hasExactSynonym | "pulmonary alveolar proteinosis" @en |
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| rdfs:label | "肺胞蛋白症" @ja |
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|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
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|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
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| rdfs:label | "特発性肺胞蛋白症" @ja |
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|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
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| hasExactSynonym | "Secondary Pulmonary Alveolar Proteinosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/229-201704-kojin.pdf |
| rdfs:label | "続発性肺胞蛋白症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000744 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018483 |
| http://nanbyodata.jp/ontology/nanbyo#1000748 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
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| hasExactSynonym | "Congenital pulmonary alveolar proteinosis" @en |
| hasExactSynonym | "Hereditary pulmonary alveolar proteinosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/229-201704-kojin.pdf |
| rdfs:label | "先天性肺胞蛋白症" @ja |
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| http://nanbyodata.jp/ontology/nanbyo#1000749 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
| has_notification_number | "230" xsd:string |
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| hasExactSynonym | "AHS" @en |
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| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/230-201804-kojin.pdf |
| rdfs:label | "肺胞低換気症候群" @ja |
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| http://nanbyodata.jp/ontology/nanbyo#1000750 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
| has_notification_number | "230" xsd:string |
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| hasExactSynonym | "obesity hypoventilation syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/230-201804-kojin.pdf |
| rdfs:label | "肥満低換気症候群" @ja |
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| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008493 |
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| http://nanbyodata.jp/ontology/nanbyo#1000751 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
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| hasExactSynonym | "CCHS" @en |
| hasExactSynonym | "Congenital central hypoventilation syndrome" @en |
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| rdfs:label | "先天性中枢性低換気症候群" @ja |
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| http://nanbyodata.jp/ontology/nanbyo#1000752 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
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| hasExactSynonym | "Idiopathic central hypoventilation syndrome" @en |
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| rdfs:label | "特発性中枢性低換気症候群" @ja |
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| http://nanbyodata.jp/ontology/nanbyo#1000753 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
| has_notification_number | "231" xsd:string |
| dcterms:identifier | "1000753" xsd:string |
| hasExactSynonym | "Alpha-1-antitrypsin deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/231-201704-kojin.pdf |
| rdfs:label | "α1−アンチトリプシン欠乏症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013282 |
| http://nanbyodata.jp/ontology/nanbyo#1000754 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "232" xsd:string |
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| hasExactSynonym | "Carney complex" @en |
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| rdfs:label | "カーニー複合" @ja |
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| http://nanbyodata.jp/ontology/nanbyo#1000755 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
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| hasExactSynonym | "Wolfram syndrome" @en |
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| rdfs:label | "ウォルフラム症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018105 |
| http://nanbyodata.jp/ontology/nanbyo#1000756 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "234" xsd:string |
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| hasExactSynonym | "Peroxisomal disease" @en |
| rdfs:isDefinedBy | file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl |
| rdfs:label | "ペルオキシソーム病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019053 |
| http://nanbyodata.jp/ontology/nanbyo#1000757 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "234" xsd:string |
| dcterms:identifier | "1000757" xsd:string |
| hasExactSynonym | "Peroxisome biogenesis disorders" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/234-01-201704-kojin.pdf |
| rdfs:label | "ペルオキシソーム形成異常症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000756 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019234 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019609 |
| http://nanbyodata.jp/ontology/nanbyo#1000758 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "234" xsd:string |
| dcterms:identifier | "1000758" xsd:string |
| hasExactSynonym | "Zellweger syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/234-01-201704-kojin.pdf |
| rdfs:label | "ツェルベーガー症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000757 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019609 |
| http://nanbyodata.jp/ontology/nanbyo#1000759 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "234" xsd:string |
| dcterms:identifier | "1000759" xsd:string |
| hasExactSynonym | "Neonatal adrenoleukodystrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/234-01-201704-kojin.pdf |
| rdfs:label | "新生児型副腎白質ジストロフィー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000757 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018598 |
| http://nanbyodata.jp/ontology/nanbyo#1000760 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "234" xsd:string |
| dcterms:identifier | "1000760" xsd:string |
| hasExactSynonym | "Infantile Refsum disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/234-01-201704-kojin.pdf |
| rdfs:label | "乳児レフサム病" @ja |
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| http://nanbyodata.jp/ontology/nanbyo#1000761 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "234" xsd:string |
| dcterms:identifier | "1000761" xsd:string |
| hasExactSynonym | "RCDP type 1" @en |
| hasExactSynonym | "Rhizomelic chondrodysplasia punctata type 1" @en |
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| rdfs:label | "根性点状軟骨異形成症1型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000757 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008972 |
| http://nanbyodata.jp/ontology/nanbyo#1000762 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "234" xsd:string |
| dcterms:identifier | "1000762" xsd:string |
| hasExactSynonym | "Peroxisomal beta-oxidation enzyme deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/234-02-201704-kojin.pdf |
| rdfs:label | "ペルオキシソームβ酸化系酵素欠損症" @ja |
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| http://nanbyodata.jp/ontology/nanbyo#1000763 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "234" xsd:string |
| dcterms:identifier | "1000763" xsd:string |
| hasExactSynonym | "AOX欠損症" @ja |
| hasExactSynonym | "Peroxisomal acyl-CoA oxidase deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/234-02-201704-kojin.pdf |
| rdfs:label | "アシル CoA オキシダーゼ欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000762 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009919 |
| http://nanbyodata.jp/ontology/nanbyo#1000764 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "234" xsd:string |
| dcterms:identifier | "1000764" xsd:string |
| hasExactSynonym | "D-bifunctional protein deficiency" @en |
| hasExactSynonym | "DBP欠損症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/234-02-201704-kojin.pdf |
| rdfs:label | "D-二頭酵素欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000762 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009855 |
| http://nanbyodata.jp/ontology/nanbyo#1000765 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "234" xsd:string |
| dcterms:identifier | "1000765" xsd:string |
| hasExactSynonym | "SCPx欠損症" @ja |
| hasExactSynonym | "Sterol carrier protein 2 deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/234-02-201704-kojin.pdf |
| rdfs:label | "ステロールキャリアプロテインX欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000762 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013391 |
| http://nanbyodata.jp/ontology/nanbyo#1000766 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "234" xsd:string |
| dcterms:identifier | "1000766" xsd:string |
| hasExactSynonym | "AMACR欠損症" @ja |
| hasExactSynonym | "Alpha-methylacyl-CoA racemase deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/234-02-201704-kojin.pdf |
| rdfs:label | "２-メチルアシルCoAラセマーゼ欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000762 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008967 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013681 |
| http://nanbyodata.jp/ontology/nanbyo#1000767 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "234" xsd:string |
| dcterms:identifier | "1000767" xsd:string |
| hasExactSynonym | "Refsum disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/234-04-201704-kojin.pdf |
| rdfs:label | "レフサム病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000756 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009958 |
| http://nanbyodata.jp/ontology/nanbyo#1000768 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "234" xsd:string |
| dcterms:identifier | "1000768" xsd:string |
| hasExactSynonym | "Plasmalogen biosynthesis enzyme deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/234-03-201704-kojin.pdf |
| rdfs:label | "プラスマローゲン合成系酵素欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000756 |
| http://nanbyodata.jp/ontology/nanbyo#1000769 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "234" xsd:string |
| dcterms:identifier | "1000769" xsd:string |
| hasExactSynonym | "RCDP type2" @en |
| hasExactSynonym | "Rhizomelic chondrodysplasia punctata type2" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/234-03-201704-kojin.pdf |
| rdfs:label | "根性点状軟骨異形成症２型" @ja |
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| http://nanbyodata.jp/ontology/nanbyo#1000770 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "234" xsd:string |
| dcterms:identifier | "1000770" xsd:string |
| hasExactSynonym | "RCDP type3" @en |
| hasExactSynonym | "Rhizomelic chondrodysplasia punctata type3" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/234-03-201704-kojin.pdf |
| rdfs:label | "根性点状軟骨異形成症３型" @ja |
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| http://nanbyodata.jp/ontology/nanbyo#1000771 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "234" xsd:string |
| dcterms:identifier | "1000771" xsd:string |
| hasExactSynonym | "Primary hyperoxaluria type 1" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/234-05-201704-kojin.pdf |
| rdfs:label | "原発性高シュウ酸尿症Ⅰ型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000756 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009823 |
| http://nanbyodata.jp/ontology/nanbyo#1000772 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "234" xsd:string |
| dcterms:identifier | "1000772" xsd:string |
| hasExactSynonym | "Acatalasemia" @en |
| hasExactSynonym | "Acatalasia" @en |
| hasExactSynonym | "無カタラーゼ血症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/234-06-201704-kojin.pdf |
| rdfs:label | "アカタラセミア" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000756 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013571 |
| http://nanbyodata.jp/ontology/nanbyo#1000773 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "235" xsd:string |
| dcterms:identifier | "1000773" xsd:string |
| hasExactSynonym | "Accessory thyroid hypergasia disease" @en |
| hasExactSynonym | "Hypoparathyroidism" @en |
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| rdfs:label | "副甲状腺機能低下症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001220 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015895 |
| http://nanbyodata.jp/ontology/nanbyo#1000774 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "236" xsd:string |
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| hasExactSynonym | "Pseudohypoparathyroidism" @en |
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| rdfs:label | "偽性副甲状腺機能低下症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
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| http://nanbyodata.jp/ontology/nanbyo#1000775 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
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| hasExactSynonym | "ACTH unresponsiveness" @en |
| hasExactSynonym | "Adrenocorticotropic hormone insensitivity" @en |
| hasExactSynonym | "Adrenocorticotropic hormone unresponsiveness" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/237-201704-kojin.pdf |
| rdfs:label | "副腎皮質刺激ホルモン不応症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000776 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000009 |
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| hasExactSynonym | "Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia" @en |
| rdfs:isDefinedBy | file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl |
| rdfs:label | "ビタミンＤ抵抗性くる病/骨軟化症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000777 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000009 |
| has_notification_number | "238" xsd:string |
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| hasExactSynonym | "Vitamin D-resistant rickets" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/238-201704-kojin.pdf |
| rdfs:label | "ビタミンＤ抵抗性くる病" @ja |
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| http://nanbyodata.jp/ontology/nanbyo#1000778 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000009 |
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| hasExactSynonym | "Vitamin D-resistant osteomalacia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/238-02-201704-kojin.pdf |
| rdfs:label | "ビタミンＤ抵抗性骨軟化症" @ja |
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|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "239" xsd:string |
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| hasExactSynonym | "Vitamin D-dependent osteomalacia" @en |
| hasExactSynonym | "Vitamin D-dependent rickets" @en |
| rdfs:isDefinedBy | file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl |
| rdfs:label | "ビタミンＤ依存性くる病/骨軟化症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000780 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
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| hasExactSynonym | "Vitamin D-dependent rickets, type 1" @en |
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| rdfs:label | "ビタミンD依存症１型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000779 |
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| http://nanbyodata.jp/ontology/nanbyo#1000781 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000010 |
| has_notification_number | "239" xsd:string |
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| hasExactSynonym | "Vitamin D-dependent rickets, type 2" @en |
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| rdfs:label | "ビタミンD依存症２型" @ja |
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| http://nanbyodata.jp/ontology/nanbyo#1000782 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "240" xsd:string |
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| hasExactSynonym | "Phenylketonuria" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/240-201704-kojin.pdf |
| rdfs:label | "フェニルケトン尿症" @ja |
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| http://nanbyodata.jp/ontology/nanbyo#1000783 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "240" xsd:string |
| dcterms:identifier | "1000783" xsd:string |
| hasExactSynonym | "Phenylalanine Hydroxylase Deficiency" @en |
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| rdfs:label | "PAH欠損症" @ja |
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| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009861 |
| http://nanbyodata.jp/ontology/nanbyo#1000784 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "240" xsd:string |
| dcterms:identifier | "1000784" xsd:string |
| hasExactSynonym | "Tetrahydrobiopterin deficiency" @en |
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| rdfs:label | "BH4欠損症" @ja |
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| http://nanbyodata.jp/ontology/nanbyo#1000785 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "240" xsd:string |
| dcterms:identifier | "1000785" xsd:string |
| hasExactSynonym | "BH4- responsive hyperphenylalaninemia" @en |
| hasExactSynonym | "BH4反応性高フェニルアラニン血症" @ja |
| hasExactSynonym | "Tetrahydrobiopterin responsive hyperphenylalaninemia" @en |
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| rdfs:label | "BH4反応性高Phe血症" @ja |
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|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "241" xsd:string |
| dcterms:identifier | "1000786" xsd:string |
| hasExactSynonym | "Hypertyrosinemia type I" @en |
| hasExactSynonym | "Tyrosinemia type 1" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/241-201704-kojin.pdf |
| rdfs:label | "高チロシン血症1型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010161 |
| http://nanbyodata.jp/ontology/nanbyo#1000787 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "242" xsd:string |
| dcterms:identifier | "1000787" xsd:string |
| hasExactSynonym | "Hypertyrosinemia type II" @en |
| hasExactSynonym | "Tyrosinemia type 2" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/242-201704-kojin.pdf |
| rdfs:label | "高チロシン血症2型" @ja |
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| http://nanbyodata.jp/ontology/nanbyo#1000788 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "243" xsd:string |
| dcterms:identifier | "1000788" xsd:string |
| hasExactSynonym | "High tyrosinemia" @en |
| hasExactSynonym | "Hypertyrosinemia type III" @en |
| hasExactSynonym | "Tyrosinemia type 3" @en |
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| rdfs:label | "高チロシン血症3型" @ja |
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| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010162 |
| http://nanbyodata.jp/ontology/nanbyo#1000789 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "244" xsd:string |
| dcterms:identifier | "1000789" xsd:string |
| hasExactSynonym | "Maple syrup urine disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/244-201704-kojin.pdf |
| rdfs:label | "メープルシロップ尿症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009563 |
| http://nanbyodata.jp/ontology/nanbyo#1000790 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "245" xsd:string |
| dcterms:identifier | "1000790" xsd:string |
| hasExactSynonym | "Propionic acidemia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/245-201704-kojin.pdf |
| rdfs:label | "プロピオン酸血症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011628 |
| http://nanbyodata.jp/ontology/nanbyo#1000791 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "246" xsd:string |
| dcterms:identifier | "1000791" xsd:string |
| hasExactSynonym | "Methylmalonic acidemia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/246-201704-kojin.pdf |
| rdfs:label | "メチルマロン酸血症" @ja |
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| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002012 |
| http://nanbyodata.jp/ontology/nanbyo#1000792 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
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| dcterms:identifier | "1000792" xsd:string |
| hasExactSynonym | "Methylmalonyl-Coenzyme A mutase deficiency" @en |
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| rdfs:label | "MCM欠損症" @ja |
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| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009612 |
| http://nanbyodata.jp/ontology/nanbyo#1000793 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "246" xsd:string |
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| hasExactSynonym | "Methylmalonic acidemia type cb1A" @en |
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| rdfs:label | "cb1A" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000791 |
| http://nanbyodata.jp/ontology/nanbyo#1000794 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
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| hasExactSynonym | "Methylmalonic acidemia type cb1B" @en |
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| rdfs:label | "cb1B" @ja |
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| http://nanbyodata.jp/ontology/nanbyo#1000795 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
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| dcterms:identifier | "1000795" xsd:string |
| hasExactSynonym | "Methylmalonic acidemia type cb1D" @en |
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| rdfs:label | "cb1D" @ja |
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| http://nanbyodata.jp/ontology/nanbyo#1000796 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "247" xsd:string |
| dcterms:identifier | "1000796" xsd:string |
| hasExactSynonym | "Isovaleric acidemia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/247-201704-kojin.pdf |
| rdfs:label | "イソ吉草酸血症" @ja |
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| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009475 |
| http://nanbyodata.jp/ontology/nanbyo#1000797 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "248" xsd:string |
| dcterms:identifier | "1000797" xsd:string |
| hasExactSynonym | "Glucose transporter type 1 deficiency" @en |
| hasExactSynonym | "Glut1 deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/248-201704-kojin.pdf |
| rdfs:label | "グルコーストランスポーター1欠損症" @ja |
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| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000188 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011724 |
| http://nanbyodata.jp/ontology/nanbyo#1000798 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "249" xsd:string |
| dcterms:identifier | "1000798" xsd:string |
| hasExactSynonym | "Glutaric Acidemia type 1" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/249-201704-kojin.pdf |
| rdfs:label | "グルタル酸血症1型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009281 |
| http://nanbyodata.jp/ontology/nanbyo#1000799 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "250" xsd:string |
| dcterms:identifier | "1000799" xsd:string |
| hasExactSynonym | "Glutaric Acidemia type 2" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/250-201704-kojin.pdf |
| rdfs:label | "グルタル酸血症2型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009282 |
| http://nanbyodata.jp/ontology/nanbyo#1000800 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "251" xsd:string |
| dcterms:identifier | "1000800" xsd:string |
| hasExactSynonym | "Urea cycle disorder" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/251-201704-kojin.pdf |
| rdfs:label | "尿素サイクル異常症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0004739 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019217 |
| http://nanbyodata.jp/ontology/nanbyo#1000801 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "251" xsd:string |
| dcterms:identifier | "1000801" xsd:string |
| hasExactSynonym | "Carbamoyl phosphate synthetase I deficiency" @en |
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| rdfs:label | "CPSI欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000800 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009376 |
| http://nanbyodata.jp/ontology/nanbyo#1000802 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "251" xsd:string |
| dcterms:identifier | "1000802" xsd:string |
| hasExactSynonym | "Ornithine transcarbamylase deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/251-201704-kojin.pdf |
| rdfs:label | "OTC欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000800 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010703 |
| http://nanbyodata.jp/ontology/nanbyo#1000803 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "251" xsd:string |
| dcterms:identifier | "1000803" xsd:string |
| hasExactSynonym | "Citrullinemia type I" @en |
| hasExactSynonym | "classic citrullinemia" @en |
| hasExactSynonym | "Ⅰ型シトルリン血症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/251-201704-kojin.pdf |
| rdfs:label | "古典型シトルリン血症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000800 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008988 |
| http://nanbyodata.jp/ontology/nanbyo#1000804 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "251" xsd:string |
| dcterms:identifier | "1000804" xsd:string |
| hasExactSynonym | "Argininosuccinic aciduria" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/251-201704-kojin.pdf |
| rdfs:label | "アルギニノコハク酸尿症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000800 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008815 |
| http://nanbyodata.jp/ontology/nanbyo#1000805 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "251" xsd:string |
| dcterms:identifier | "1000805" xsd:string |
| hasExactSynonym | "Argininemia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/251-201704-kojin.pdf |
| rdfs:label | "アルギニン血症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000800 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008814 |
| http://nanbyodata.jp/ontology/nanbyo#1000806 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "251" xsd:string |
| dcterms:identifier | "1000806" xsd:string |
| hasExactSynonym | "NAGS deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/251-201704-kojin.pdf |
| rdfs:label | "NAGS欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000800 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009377 |
| http://nanbyodata.jp/ontology/nanbyo#1000807 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "252" xsd:string |
| dcterms:identifier | "1000807" xsd:string |
| hasExactSynonym | "Lysinuric protein intolerance" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/252-201704-kojin.pdf |
| rdfs:label | "リジン尿性蛋白不耐症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009109 |
| http://nanbyodata.jp/ontology/nanbyo#1000808 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "253" xsd:string |
| dcterms:identifier | "1000808" xsd:string |
| hasExactSynonym | "Congenital folate malabsorption" @en |
| hasExactSynonym | "Hereditary Folate Malabsorption" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/253-201704-kojin.pdf |
| rdfs:label | "先天性葉酸吸収不全" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009238 |
| http://nanbyodata.jp/ontology/nanbyo#1000809 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "254" xsd:string |
| dcterms:identifier | "1000809" xsd:string |
| hasExactSynonym | "Porphyria" @en |
| rdfs:isDefinedBy | file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl |
| rdfs:label | "ポルフィリン症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019142 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0037939 |
| http://nanbyodata.jp/ontology/nanbyo#1000810 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "254" xsd:string |
| dcterms:identifier | "1000810" xsd:string |
| hasExactSynonym | "Acute intermittent porphyria" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/254-01-201704-kojin.pdf |
| rdfs:label | "急性間欠性ポルフィリン症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000809 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008294 |
| http://nanbyodata.jp/ontology/nanbyo#1000811 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "254" xsd:string |
| dcterms:identifier | "1000811" xsd:string |
| hasExactSynonym | "Hereditary coproporphyria" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/254-02-201704-kojin.pdf |
| rdfs:label | "遺伝性コプロポルフィリン症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000809 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007369 |
| http://nanbyodata.jp/ontology/nanbyo#1000812 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "254" xsd:string |
| dcterms:identifier | "1000812" xsd:string |
| hasExactSynonym | "Variegate porphyria" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/254-03-201704-kojin.pdf |
| rdfs:label | "異型ポルフィリン症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000809 |
| http://nanbyodata.jp/ontology/nanbyo#1000813 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "254" xsd:string |
| dcterms:identifier | "1000813" xsd:string |
| hasExactSynonym | "EPP" @en |
| hasExactSynonym | "Erythropoietic protoporphyria" @en |
| hasExactSynonym | "骨髄性プロトポルフィリン症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/254-04-201704-kojin.pdf |
| rdfs:label | "赤芽球性プロトポルフィリン症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000809 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001676 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008319 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019263 |
| http://nanbyodata.jp/ontology/nanbyo#1000814 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "254" xsd:string |
| dcterms:identifier | "1000814" xsd:string |
| hasExactSynonym | "Porphyria cutanea tarda" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/254-05-201704-kojin.pdf |
| rdfs:label | "晩発性皮膚ポルフィリン症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000809 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008296 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015104 |
| http://nanbyodata.jp/ontology/nanbyo#1000815 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "254" xsd:string |
| dcterms:identifier | "1000815" xsd:string |
| hasExactSynonym | "Congenital erythropoietic porphyria" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/254-06-201704-kojin.pdf |
| rdfs:label | "先天性骨髄性ポルフィリン症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000809 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009902 |
| http://nanbyodata.jp/ontology/nanbyo#1000816 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "254" xsd:string |
| dcterms:identifier | "1000816" xsd:string |
| hasExactSynonym | "X-linked dominant protoporphyria" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/254-07-201704-kojin.pdf |
| rdfs:label | "X連鎖優性プロトポルフィリン症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000809 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010420 |
| http://nanbyodata.jp/ontology/nanbyo#1000817 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "254" xsd:string |
| dcterms:identifier | "1000817" xsd:string |
| hasExactSynonym | "Hepatoerythropoietic porphyria" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/254-08-201704-kojin.pdf |
| rdfs:label | "肝性骨髄性ポルフィリン症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000809 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019799 |
| http://nanbyodata.jp/ontology/nanbyo#1000818 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "255" xsd:string |
| dcterms:identifier | "1000818" xsd:string |
| hasExactSynonym | "Multiple carboxylase deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/255-201704-kojin.pdf |
| rdfs:label | "複合カルボキシラーゼ欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009666 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015454 |
| http://nanbyodata.jp/ontology/nanbyo#1000819 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "255" xsd:string |
| dcterms:identifier | "1000819" xsd:string |
| hasExactSynonym | "HCS欠損症" @ja |
| hasExactSynonym | "Holocarboxylase synthetase deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/255-201704-kojin.pdf |
| rdfs:label | "ホロカルボキシラーゼ合成酵素欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000818 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009666 |
| http://nanbyodata.jp/ontology/nanbyo#1000820 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "255" xsd:string |
| dcterms:identifier | "1000820" xsd:string |
| hasExactSynonym | "Biotinidase deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/255-201704-kojin.pdf |
| rdfs:label | "ビオチニダーゼ欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000818 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009665 |
| http://nanbyodata.jp/ontology/nanbyo#1000821 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "256" xsd:string |
| dcterms:identifier | "1000821" xsd:string |
| hasExactSynonym | "Glycogen storage disease type VII" @en |
| hasExactSynonym | "Muscle glycogen storage disease" @en |
| hasExactSynonym | "Muscular glycogenosis" @en |
| hasExactSynonym | "Skeletal muscle glycogenosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/256-201704-kojin.pdf |
| rdfs:label | "筋型糖原病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009295 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016118 |
| http://nanbyodata.jp/ontology/nanbyo#1000822 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "256" xsd:string |
| dcterms:identifier | "1000822" xsd:string |
| hasExactSynonym | "Glycogen storage diseases type 0" @en |
| hasExactSynonym | "Glycogen synthase deficiency" @en |
| hasExactSynonym | "グリコーゲン合成酵素欠損症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/256-201704-kojin.pdf |
| rdfs:label | "筋型糖原病0型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000821 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009414 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017693 |
| http://nanbyodata.jp/ontology/nanbyo#1000823 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "256" xsd:string |
| dcterms:identifier | "1000823" xsd:string |
| hasExactSynonym | "Glycogen storage diseases type II" @en |
| hasExactSynonym | "Pompe disease" @en |
| hasExactSynonym | "Pompe病" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/256-201704-kojin.pdf |
| rdfs:label | "筋型糖原病II型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000821 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009290 |
| http://nanbyodata.jp/ontology/nanbyo#1000824 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "256" xsd:string |
| dcterms:identifier | "1000824" xsd:string |
| hasExactSynonym | "Cori disease" @en |
| hasExactSynonym | "Cori病" @ja |
| hasExactSynonym | "Glycogen storage diseases type III" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/256-201704-kojin.pdf |
| rdfs:label | "筋型糖原病III型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000821 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009291 |
| http://nanbyodata.jp/ontology/nanbyo#1000825 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "256" xsd:string |
| dcterms:identifier | "1000825" xsd:string |
| hasExactSynonym | "Andersen disease" @en |
| hasExactSynonym | "Andersen病" @ja |
| hasExactSynonym | "Glycogen storage diseases type IV" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/256-201704-kojin.pdf |
| rdfs:label | "筋型糖原病IV型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000821 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008222 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009292 |
| http://nanbyodata.jp/ontology/nanbyo#1000826 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "256" xsd:string |
| dcterms:identifier | "1000826" xsd:string |
| hasExactSynonym | "Glycogen storage diseases type V" @en |
| hasExactSynonym | "McArdle disease" @en |
| hasExactSynonym | "McArdle病" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/256-201704-kojin.pdf |
| rdfs:label | "筋型糖原病V型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000821 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009293 |
| http://nanbyodata.jp/ontology/nanbyo#1000827 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "256" xsd:string |
| dcterms:identifier | "1000827" xsd:string |
| hasExactSynonym | "Glycogen storage diseases type VII" @en |
| hasExactSynonym | "Tarui disease" @en |
| hasExactSynonym | "Tarui病" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/256-201704-kojin.pdf |
| rdfs:label | "筋型糖原病VII型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000821 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009295 |
| http://nanbyodata.jp/ontology/nanbyo#1000828 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "256" xsd:string |
| dcterms:identifier | "1000828" xsd:string |
| hasExactSynonym | "Glycogen storage diseases type IXd" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/256-201704-kojin.pdf |
| rdfs:label | "筋型糖原病IXd型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000821 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010362 |
| http://nanbyodata.jp/ontology/nanbyo#1000829 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "256" xsd:string |
| dcterms:identifier | "1000829" xsd:string |
| hasExactSynonym | "Phosphoglycerate kinase deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/256-201704-kojin.pdf |
| rdfs:label | "PGK欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000821 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010392 |
| http://nanbyodata.jp/ontology/nanbyo#1000830 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "256" xsd:string |
| dcterms:identifier | "1000830" xsd:string |
| hasExactSynonym | "Glycogen storage diseases type X" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/256-201704-kojin.pdf |
| rdfs:label | "筋型糖原病X型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000821 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009865 |
| http://nanbyodata.jp/ontology/nanbyo#1000831 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "256" xsd:string |
| dcterms:identifier | "1000831" xsd:string |
| hasExactSynonym | "Glycogen storage diseases type XI" @en |
| hasExactSynonym | "Kanno disease" @en |
| hasExactSynonym | "Kanno病" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/256-201704-kojin.pdf |
| rdfs:label | "筋型糖原病XI型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000821 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009216 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013047 |
| http://nanbyodata.jp/ontology/nanbyo#1000832 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "256" xsd:string |
| dcterms:identifier | "1000832" xsd:string |
| hasExactSynonym | "Glycogen storage diseases type XII" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/256-201704-kojin.pdf |
| rdfs:label | "筋型糖原病XII型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000821 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012747 |
| http://nanbyodata.jp/ontology/nanbyo#1000833 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "256" xsd:string |
| dcterms:identifier | "1000833" xsd:string |
| hasExactSynonym | "Glycogen storage diseases type XIII" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/256-201704-kojin.pdf |
| rdfs:label | "筋型糖原病XIII型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000821 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013046 |
| http://nanbyodata.jp/ontology/nanbyo#1000834 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "256" xsd:string |
| dcterms:identifier | "1000834" xsd:string |
| hasExactSynonym | "Glycogen storage diseases type XIV" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/256-201704-kojin.pdf |
| rdfs:label | "筋型糖原病XIV型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000821 |
| http://nanbyodata.jp/ontology/nanbyo#1000835 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "256" xsd:string |
| dcterms:identifier | "1000835" xsd:string |
| hasExactSynonym | "Glycogen storage diseases type XV" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/256-201704-kojin.pdf |
| rdfs:label | "筋型糖原病XV型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000821 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013291 |
| http://nanbyodata.jp/ontology/nanbyo#1000836 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "257" xsd:string |
| dcterms:identifier | "1000836" xsd:string |
| hasExactSynonym | "Hepatic glycogenosis" @en |
| rdfs:isDefinedBy | file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl |
| rdfs:label | "肝型糖原病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000837 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "257" xsd:string |
| dcterms:identifier | "1000837" xsd:string |
| hasExactSynonym | "Glycogen storage disease type I-III-VI-IX" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/257-01-201704-kojin.pdf |
| rdfs:label | "糖原病Ⅰ-Ⅲ-Ⅵ-Ⅸ型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000836 |
| http://nanbyodata.jp/ontology/nanbyo#1000838 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "257" xsd:string |
| dcterms:identifier | "1000838" xsd:string |
| hasExactSynonym | "Glycogen storage disease due to glucose-6-phosphatase deficiency" @en |
| hasExactSynonym | "Glycogen storage disease type Ia" @en |
| hasExactSynonym | "グルコース-6-ホスファターゼ欠損症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/257-01-201704-kojin.pdf |
| rdfs:label | "糖原病Ⅰa型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000837 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002413 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009287 |
| http://nanbyodata.jp/ontology/nanbyo#1000839 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "257" xsd:string |
| dcterms:identifier | "1000839" xsd:string |
| hasExactSynonym | "G6P translocase deficiency" @en |
| hasExactSynonym | "G6PT deficiency" @en |
| hasExactSynonym | "Glycogen storage disease type Ib" @en |
| hasExactSynonym | "グルコース-6-ホスファターゼトランスポーター異常症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/257-01-201704-kojin.pdf |
| rdfs:label | "糖原病Ⅰb型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000837 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009288 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0023258 |
| http://nanbyodata.jp/ontology/nanbyo#1000840 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "257" xsd:string |
| dcterms:identifier | "1000840" xsd:string |
| hasExactSynonym | "GSD type IIIa" @en |
| hasExactSynonym | "Glycogen storage disease due to glycogen debranching enzyme deficiency" @en |
| hasExactSynonym | "グリコーゲン脱分枝酵素欠損症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/257-01-201704-kojin.pdf |
| rdfs:label | "糖原病Ⅲa型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000837 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009291 |
| http://nanbyodata.jp/ontology/nanbyo#1000841 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "257" xsd:string |
| dcterms:identifier | "1000841" xsd:string |
| hasExactSynonym | "GSD type IIIb" @en |
| hasExactSynonym | "Glycogen storage disease due to glycogen debranching enzyme deficiency" @en |
| hasExactSynonym | "グリコーゲン脱分枝酵素欠損症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/257-01-201704-kojin.pdf |
| rdfs:label | "糖原病Ⅲb型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000837 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009291 |
| http://nanbyodata.jp/ontology/nanbyo#1000842 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "257" xsd:string |
| dcterms:identifier | "1000842" xsd:string |
| hasExactSynonym | "GSD type IIIc" @en |
| hasExactSynonym | "amylo 1,6- glucosidase deficiency" @en |
| hasExactSynonym | "グルコシダーゼ欠損症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/257-01-201704-kojin.pdf |
| rdfs:label | "糖原病Ⅲc型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000837 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009291 |
| http://nanbyodata.jp/ontology/nanbyo#1000843 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "257" xsd:string |
| dcterms:identifier | "1000843" xsd:string |
| hasExactSynonym | "4-alpha-glucanotransferase deficiency" @en |
| hasExactSynonym | "GSD type IIId" @en |
| hasExactSynonym | "トランスフェラーゼ欠損症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/257-01-201704-kojin.pdf |
| rdfs:label | "糖原病Ⅲd型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000837 |
| http://nanbyodata.jp/ontology/nanbyo#1000844 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "257" xsd:string |
| dcterms:identifier | "1000844" xsd:string |
| hasExactSynonym | "Glycogen storage disease type VI" @en |
| hasExactSynonym | "Hepatic phosphorylase deficiency" @en |
| hasExactSynonym | "Hers disease" @en |
| hasExactSynonym | "ハース病" @ja |
| hasExactSynonym | "肝グリコーゲンホスホリラーゼ欠損症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/257-01-201704-kojin.pdf |
| rdfs:label | "糖原病Ⅵ型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000837 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009294 |
| http://nanbyodata.jp/ontology/nanbyo#1000845 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "257" xsd:string |
| dcterms:identifier | "1000845" xsd:string |
| hasExactSynonym | "Glycogen storage disease type Ⅸa" @en |
| hasExactSynonym | "ホスホリラーゼ欠損症（αサブユニット異常症）" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/257-01-201704-kojin.pdf |
| rdfs:label | "糖原病Ⅸa型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000837 |
| http://nanbyodata.jp/ontology/nanbyo#1000846 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "257" xsd:string |
| dcterms:identifier | "1000846" xsd:string |
| hasExactSynonym | "Glycogen storage disease type Ⅸb" @en |
| hasExactSynonym | "ホスホリラーゼ欠損症（βサブユニット異常症）" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/257-01-201704-kojin.pdf |
| rdfs:label | "糖原病Ⅸb型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000837 |
| http://nanbyodata.jp/ontology/nanbyo#1000847 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "257" xsd:string |
| dcterms:identifier | "1000847" xsd:string |
| hasExactSynonym | "Glycogen storage disease type Ⅸc" @en |
| hasExactSynonym | "ホスホリラーゼ欠損症（γサブユニット異常症）" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/257-01-201704-kojin.pdf |
| rdfs:label | "糖原病Ⅸc型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000837 |
| http://nanbyodata.jp/ontology/nanbyo#1000848 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "257" xsd:string |
| dcterms:identifier | "1000848" xsd:string |
| hasExactSynonym | "Glycogen storage disease type IV" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/257-02-201704-kojin.pdf |
| rdfs:label | "Ⅳ型糖原病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000836 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009292 |
| http://nanbyodata.jp/ontology/nanbyo#1000849 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "258" xsd:string |
| dcterms:identifier | "1000849" xsd:string |
| hasExactSynonym | "GALT deficiency" @en |
| hasExactSynonym | "Galactose-1-phosphate uridyltransferase deficiency" @en |
| hasExactSynonym | "Galactose-1-phosphate uridylyltransferase deficiency" @en |
| hasExactSynonym | "Galactosemia type 1" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/258-201704-kojin.pdf |
| rdfs:label | "ガラクトース-1-リン酸ウリジルトランスフェラーゼ欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009258 |
| http://nanbyodata.jp/ontology/nanbyo#1000850 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "259" xsd:string |
| dcterms:identifier | "1000850" xsd:string |
| hasExactSynonym | "LCAT deficiency" @en |
| hasExactSynonym | "Lecithin‐cholesterol acyltransferase deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/259-201704-kojin.pdf |
| rdfs:label | "レシチンコレステロールアシルトランスフェラーゼ欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009515 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018999 |
| http://nanbyodata.jp/ontology/nanbyo#1000851 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "260" xsd:string |
| dcterms:identifier | "1000851" xsd:string |
| hasExactSynonym | "Sitosterolemia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/260-201704-kojin.pdf |
| rdfs:label | "シトステロール血症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008863 |
| http://nanbyodata.jp/ontology/nanbyo#1000852 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "261" xsd:string |
| dcterms:identifier | "1000852" xsd:string |
| hasExactSynonym | "Tangier disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/261-201704-kojin.pdf |
| rdfs:label | "タンジール病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008783 |
| http://nanbyodata.jp/ontology/nanbyo#1000853 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "262" xsd:string |
| dcterms:identifier | "1000853" xsd:string |
| hasExactSynonym | "Primary Hyperchylomicronemia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/262-201704-kojin.pdf |
| rdfs:label | "原発性高カイロミクロン血症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000854 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "263" xsd:string |
| dcterms:identifier | "1000854" xsd:string |
| hasExactSynonym | "Cerebrotendinous xanthomatosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/263-201704-kojin.pdf |
| rdfs:label | "脳腱黄色腫症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008948 |
| http://nanbyodata.jp/ontology/nanbyo#1000855 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "264" xsd:string |
| dcterms:identifier | "1000855" xsd:string |
| hasExactSynonym | "Abetalipoproteinemia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/264-201704-kojin.pdf |
| rdfs:label | "無βリポタンパク血症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008692 |
| http://nanbyodata.jp/ontology/nanbyo#1000856 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "265" xsd:string |
| dcterms:identifier | "1000856" xsd:string |
| hasExactSynonym | "Lipodystrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/265-201704-kojin.pdf |
| rdfs:label | "脂肪萎縮症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0006573 |
| http://nanbyodata.jp/ontology/nanbyo#1000857 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "265" xsd:string |
| dcterms:identifier | "1000857" xsd:string |
| hasExactSynonym | "Generalized congenital lipodystrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/265-201704-kojin.pdf |
| rdfs:label | "先天性全身性脂肪萎縮症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000856 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018883 |
| http://nanbyodata.jp/ontology/nanbyo#1000858 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "265" xsd:string |
| dcterms:identifier | "1000858" xsd:string |
| hasExactSynonym | "Acquired generalized lipodystrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/265-201704-kojin.pdf |
| rdfs:label | "後天性全身性脂肪萎縮症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000856 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019193 |
| http://nanbyodata.jp/ontology/nanbyo#1000859 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "265" xsd:string |
| dcterms:identifier | "1000859" xsd:string |
| hasExactSynonym | "Familial partial lipodystrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/265-201704-kojin.pdf |
| rdfs:label | "家族性部分性脂肪萎縮症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000856 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020088 |
| http://nanbyodata.jp/ontology/nanbyo#1000860 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "265" xsd:string |
| dcterms:identifier | "1000860" xsd:string |
| hasExactSynonym | "Partial acquired lipodystrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/265-201704-kojin.pdf |
| rdfs:label | "後天性部分性脂肪萎縮症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000856 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012104 |
| http://nanbyodata.jp/ontology/nanbyo#1000861 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "266" xsd:string |
| dcterms:identifier | "1000861" xsd:string |
| hasExactSynonym | "Familial Mediterranean fever" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/266-201704-kojin.pdf |
| rdfs:label | "家族性地中海熱" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009572 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018088 |
| http://nanbyodata.jp/ontology/nanbyo#1000863 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "266" xsd:string |
| dcterms:identifier | "1000863" xsd:string |
| hasExactSynonym | "Atypical familial Mediterranean fever" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/266-201704-kojin.pdf |
| rdfs:label | "家族性地中海熱非典型例" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000861 |
| http://nanbyodata.jp/ontology/nanbyo#1000864 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "267" xsd:string |
| dcterms:identifier | "1000864" xsd:string |
| hasExactSynonym | "Hyper-IgD syndrome" @en |
| hasExactSynonym | "Hyperimmunoglobulinemia D and periodic fever syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/267-201704-kojin.pdf |
| rdfs:label | "高ＩｇＤ症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009849 |
| http://nanbyodata.jp/ontology/nanbyo#1000865 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "268" xsd:string |
| dcterms:identifier | "1000865" xsd:string |
| hasExactSynonym | "Autoinflammation, lipodystrophy, and dermatosis syndrome" @en |
| hasExactSynonym | "CANDLE syndrome" @en |
| hasExactSynonym | "JMP syndrome" @en |
| hasExactSynonym | "Nakajo-Nishimura syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/268-201704-kojin.pdf |
| rdfs:label | "中條・西村症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009726 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016849 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017959 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017960 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0054698 |
| http://nanbyodata.jp/ontology/nanbyo#1000866 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "269" xsd:string |
| dcterms:identifier | "1000866" xsd:string |
| hasExactSynonym | "PAPA syndrome" @en |
| hasExactSynonym | "Pyogenic arthritis, pyoderma gangrenosum and acne syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/269-201704-kojin.pdf |
| rdfs:label | "化膿性無菌性関節炎・壊疽性膿皮症・アクネ症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011462 |
| http://nanbyodata.jp/ontology/nanbyo#1000867 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000009 |
| has_notification_number | "270" xsd:string |
| dcterms:identifier | "1000867" xsd:string |
| hasExactSynonym | "Chronic recurrent multifocal osteomyelitis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/270-201704-kojin.pdf |
| rdfs:label | "慢性再発性多発性骨髄炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009813 |
| http://nanbyodata.jp/ontology/nanbyo#1000868 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000009 |
| has_notification_number | "271" xsd:string |
| dcterms:identifier | "1000868" xsd:string |
| hasExactSynonym | "Ankylosing spondylitis" @en |
| hasExactSynonym | "Spondylarthritis ankylopoietica" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/271-201704-kojin.pdf |
| rdfs:label | "強直性脊椎炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005306 |
| http://nanbyodata.jp/ontology/nanbyo#1000869 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000009 |
| has_notification_number | "272" xsd:string |
| dcterms:identifier | "1000869" xsd:string |
| hasExactSynonym | "Fibrodysplasia ossificans progressiva" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/272-201704-kojin.pdf |
| rdfs:label | "進行性骨化性線維異形成症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0003964 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007606 |
| http://nanbyodata.jp/ontology/nanbyo#1000870 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000009 |
| has_notification_number | "273" xsd:string |
| dcterms:identifier | "1000870" xsd:string |
| hasExactSynonym | "Congenital scoliosis with rib anomaly" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/273-201704-kojin.pdf |
| rdfs:label | "肋骨異常を伴う先天性側弯症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000871 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000009 |
| has_notification_number | "274" xsd:string |
| dcterms:identifier | "1000871" xsd:string |
| hasExactSynonym | "Osteogenesis Imperfecta" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/274-201704-kojin.pdf |
| rdfs:label | "骨形成不全症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000872 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000009 |
| has_notification_number | "275" xsd:string |
| dcterms:identifier | "1000872" xsd:string |
| hasExactSynonym | "Thanatophoric dysplasia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/275-201704-kojin.pdf |
| rdfs:label | "タナトフォリック骨異形成症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008546 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017042 |
| http://nanbyodata.jp/ontology/nanbyo#1000873 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000009 |
| has_notification_number | "275" xsd:string |
| dcterms:identifier | "1000873" xsd:string |
| hasExactSynonym | "Thanatophoric dysplasia type 1" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/275-201704-kojin.pdf |
| rdfs:label | "タナトフォリック骨異形成症１型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000872 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008546 |
| http://nanbyodata.jp/ontology/nanbyo#1000874 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000009 |
| has_notification_number | "275" xsd:string |
| dcterms:identifier | "1000874" xsd:string |
| hasExactSynonym | "Thanatophoric dysplasia type 2" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/275-201704-kojin.pdf |
| rdfs:label | "タナトフォリック骨異形成症２型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000872 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008547 |
| http://nanbyodata.jp/ontology/nanbyo#1000875 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000009 |
| has_notification_number | "276" xsd:string |
| dcterms:identifier | "1000875" xsd:string |
| hasExactSynonym | "Achondroplasia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/276-201704-kojin.pdf |
| rdfs:label | "軟骨無形成症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007037 |
| http://nanbyodata.jp/ontology/nanbyo#1000876 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
| has_notification_number | "277" xsd:string |
| dcterms:identifier | "1000876" xsd:string |
| hasExactSynonym | "Lymphangiomatosis/Gorham disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/277-201704-kojin.pdf |
| rdfs:label | "リンパ管腫症/ゴーハム病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000877 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
| has_notification_number | "277" xsd:string |
| dcterms:identifier | "1000877" xsd:string |
| hasExactSynonym | "Generalized lymphatic anomaly" @en |
| hasExactSynonym | "Lymphangiomatosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/277-201704-kojin.pdf |
| rdfs:label | "リンパ管腫症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000876 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015408 |
| http://nanbyodata.jp/ontology/nanbyo#1000878 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
| has_notification_number | "277" xsd:string |
| dcterms:identifier | "1000878" xsd:string |
| hasExactSynonym | "Gorham disease" @en |
| hasExactSynonym | "Gorham-Stout disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/277-201704-kojin.pdf |
| rdfs:label | "ゴーハム病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000876 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0003157 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007414 |
| http://nanbyodata.jp/ontology/nanbyo#1000879 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
| has_notification_number | "278" xsd:string |
| dcterms:identifier | "1000879" xsd:string |
| hasExactSynonym | "Huge Lymphatic malformation" @en |
| hasExactSynonym | "Huge Lymphatic malformation with cervicofacial lesion" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/278-201704-kojin.pdf |
| rdfs:label | "巨大リンパ管奇形（頚部顔面病変）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000880 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "279" xsd:string |
| dcterms:identifier | "1000880" xsd:string |
| hasExactSynonym | "Huge venous malformation" @en |
| hasExactSynonym | "Huge venous malformation with cervical, oral and pharyngeal diffuse lesion" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/279-201704-kojin.pdf |
| rdfs:label | "巨大静脈奇形（頚部口腔咽頭びまん性病変）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000881 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "280" xsd:string |
| dcterms:identifier | "1000881" xsd:string |
| hasExactSynonym | "Huge arteriovenous malformation" @en |
| hasExactSynonym | "Huge arteriovenous malformation with cervicofacial or limb lesion" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/280-201704-kojin.pdf |
| rdfs:label | "巨大動静脈奇形（頚部顔面又は四肢病変）" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000882 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "281" xsd:string |
| dcterms:identifier | "1000882" xsd:string |
| hasExactSynonym | "Klippel-Trenaunay-Weber syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/281-201704-kojin.pdf |
| rdfs:label | "クリッペル・トレノネー・ウェーバー症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007864 |
| http://nanbyodata.jp/ontology/nanbyo#1000883 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "282" xsd:string |
| dcterms:identifier | "1000883" xsd:string |
| hasExactSynonym | "Congenital dyserythropoietic anemia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/282-201704-kojin.pdf |
| rdfs:label | "先天性赤血球形成異常性貧血" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019403 |
| http://nanbyodata.jp/ontology/nanbyo#1000884 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "282" xsd:string |
| dcterms:identifier | "1000884" xsd:string |
| hasExactSynonym | "Congenital dyserythropoietic anemia type I" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/282-201704-kojin.pdf |
| rdfs:label | "先天性赤血球形成異常性貧血 Type I" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000883 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020337 |
| http://nanbyodata.jp/ontology/nanbyo#1000885 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "282" xsd:string |
| dcterms:identifier | "1000885" xsd:string |
| hasExactSynonym | "Congenital dyserythropoietic anemia type II" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/282-201704-kojin.pdf |
| rdfs:label | "先天性赤血球形成異常性貧血 Type II" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000883 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009134 |
| http://nanbyodata.jp/ontology/nanbyo#1000886 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "282" xsd:string |
| dcterms:identifier | "1000886" xsd:string |
| hasExactSynonym | "Congenital dyserythropoietic anemia type III" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/282-201704-kojin.pdf |
| rdfs:label | "先天性赤血球形成異常性貧血 Type III" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000883 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007109 |
| http://nanbyodata.jp/ontology/nanbyo#1000887 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "283" xsd:string |
| dcterms:identifier | "1000887" xsd:string |
| hasExactSynonym | "Acquired pure red cell aplasia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/283-201704-kojin.pdf |
| rdfs:label | "後天性赤芽球癆" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020338 |
| http://nanbyodata.jp/ontology/nanbyo#1000888 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "284" xsd:string |
| dcterms:identifier | "1000888" xsd:string |
| hasExactSynonym | "Diamond-Blackfan anemia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/284-201704-kojin.pdf |
| rdfs:label | "ダイアモンド・ブラックファン貧血" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015253 |
| http://nanbyodata.jp/ontology/nanbyo#1000889 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "285" xsd:string |
| dcterms:identifier | "1000889" xsd:string |
| hasExactSynonym | "Fanconi anemia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/285-201704-kojin.pdf |
| rdfs:label | "ファンコニ貧血" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009215 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019391 |
| http://nanbyodata.jp/ontology/nanbyo#1000890 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "286" xsd:string |
| dcterms:identifier | "1000890" xsd:string |
| hasExactSynonym | "Hereditary sideroblastic anemia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/286-201704-kojin.pdf |
| rdfs:label | "遺伝性鉄芽球性貧血" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000891 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "287" xsd:string |
| dcterms:identifier | "1000891" xsd:string |
| hasExactSynonym | "Epstein syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/287-201704-kojin.pdf |
| rdfs:label | "エプスタイン症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007929 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015912 |
| http://nanbyodata.jp/ontology/nanbyo#1000892 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "287" xsd:string |
| dcterms:identifier | "1000892" xsd:string |
| hasExactSynonym | "severe Epstein syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/287-201704-kojin.pdf |
| rdfs:label | "最重症型エプスタイン症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000891 |
| http://nanbyodata.jp/ontology/nanbyo#1000893 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "287" xsd:string |
| dcterms:identifier | "1000893" xsd:string |
| hasExactSynonym | "" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/287-201704-kojin.pdf |
| rdfs:label | "中等症エプスタイン症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000891 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002254 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008840 |
| http://nanbyodata.jp/ontology/nanbyo#1000894 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "288" xsd:string |
| dcterms:identifier | "1000894" xsd:string |
| hasExactSynonym | "Autoimmune Hemorrhaphilia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/288-201804-kojin.pdf |
| rdfs:label | "自己免疫性出血病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000895 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "288" xsd:string |
| dcterms:identifier | "1000895" xsd:string |
| hasExactSynonym | "AH13" @en |
| hasExactSynonym | "Autoimmune Hemorrhaphilia XIII/13" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/288-201804-kojin.pdf |
| rdfs:label | "自己免疫性後天性凝固第 XIII/13 因子欠乏症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000894 |
| http://nanbyodata.jp/ontology/nanbyo#1000896 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "288" xsd:string |
| dcterms:identifier | "1000896" xsd:string |
| hasExactSynonym | "Acquired hemophilia A" @en |
| hasExactSynonym | "後天性血友病A" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/288-201804-kojin.pdf |
| rdfs:label | "自己免疫性後天性凝固第 VIII/8 因子欠乏症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000894 |
| http://nanbyodata.jp/ontology/nanbyo#1000897 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "288" xsd:string |
| dcterms:identifier | "1000897" xsd:string |
| hasExactSynonym | "AVWD" @en |
| hasExactSynonym | "AVWD" @ja |
| hasExactSynonym | "Acquired von Willebrand disease" @en |
| hasExactSynonym | "自己免疫性後天性フォンウィルブランド病" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/288-201804-kojin.pdf |
| rdfs:label | "自己免疫性後天性フォンウィルブランド因子欠乏症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000894 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020460 |
| http://nanbyodata.jp/ontology/nanbyo#1000898 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "288" xsd:string |
| dcterms:identifier | "1000898" xsd:string |
| hasExactSynonym | "AF5D" @en |
| hasExactSynonym | "Acquired Factor V Inhibitor" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/288-201804-kojin.pdf |
| rdfs:label | "自己免疫性後天性凝固第 V/5 因子欠乏症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000894 |
| http://nanbyodata.jp/ontology/nanbyo#1000899 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "289" xsd:string |
| dcterms:identifier | "1000899" xsd:string |
| hasExactSynonym | "Cronkhite-Canada syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/289-201704-kojin.pdf |
| rdfs:label | "クロンカイト・カナダ症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008283 |
| http://nanbyodata.jp/ontology/nanbyo#1000900 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "290" xsd:string |
| dcterms:identifier | "1000900" xsd:string |
| hasExactSynonym | "Chronic nonspecific multiple ulcers of the small intestine" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/290-201704-kojin.pdf |
| rdfs:label | "非特異性多発性小腸潰瘍症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000901 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "291" xsd:string |
| dcterms:identifier | "1000901" xsd:string |
| hasExactSynonym | "Hirschsprung disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/291-201704-kojin.pdf |
| rdfs:label | "ヒルシュスプルング病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007723 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018309 |
| http://nanbyodata.jp/ontology/nanbyo#1000902 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "291" xsd:string |
| dcterms:identifier | "1000902" xsd:string |
| hasExactSynonym | "Short-Segment Hirschsprung's Disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/291-201704-kojin.pdf |
| rdfs:label | "直腸下部型ヒルシュスプルング病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000901 |
| http://nanbyodata.jp/ontology/nanbyo#1000903 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "291" xsd:string |
| dcterms:identifier | "1000903" xsd:string |
| hasExactSynonym | "rectosigmoid Hirschsprung's disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/291-201704-kojin.pdf |
| rdfs:label | "S状結腸型ヒルシュスプルング病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000901 |
| http://nanbyodata.jp/ontology/nanbyo#1000904 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "291" xsd:string |
| dcterms:identifier | "1000904" xsd:string |
| hasExactSynonym | "Long-segment Hirschsprung's disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/291-201704-kojin.pdf |
| rdfs:label | "左右結腸型ヒルシュスプルング病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000901 |
| http://nanbyodata.jp/ontology/nanbyo#1000905 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "291" xsd:string |
| dcterms:identifier | "1000905" xsd:string |
| hasExactSynonym | "Entire colon Hirschsprung disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/291-201704-kojin.pdf |
| rdfs:label | "全結腸型ヒルシュスプルング病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000901 |
| http://nanbyodata.jp/ontology/nanbyo#1000906 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "291" xsd:string |
| dcterms:identifier | "1000906" xsd:string |
| hasExactSynonym | "Extensive aganglionosis Hirschsprung disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/291-201704-kojin.pdf |
| rdfs:label | "小腸型ヒルシュスプルング病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000901 |
| http://nanbyodata.jp/ontology/nanbyo#1000907 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "292" xsd:string |
| dcterms:identifier | "1000907" xsd:string |
| hasExactSynonym | "Cloacal exstrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/292-201704-kojin.pdf |
| rdfs:label | "総排泄腔外反症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009774 |
| http://nanbyodata.jp/ontology/nanbyo#1000908 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "293" xsd:string |
| dcterms:identifier | "1000908" xsd:string |
| hasExactSynonym | "Persistent cloaca" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/293-201704-kojin.pdf |
| rdfs:label | "総排泄腔遺残" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000909 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
| has_notification_number | "294" xsd:string |
| dcterms:identifier | "1000909" xsd:string |
| hasExactSynonym | "Congenital diaphragmatic hernia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/294-201704-kojin.pdf |
| rdfs:label | "先天性横隔膜ヘルニア" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005711 |
| http://nanbyodata.jp/ontology/nanbyo#1000910 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "295" xsd:string |
| dcterms:identifier | "1000910" xsd:string |
| hasExactSynonym | "Infant giant liver hemangioma" @en |
| hasExactSynonym | "Infant huge hepatic hemangioma" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/295-201704-kojin.pdf |
| rdfs:label | "乳幼児肝巨大血管腫" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000911 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "296" xsd:string |
| dcterms:identifier | "1000911" xsd:string |
| hasExactSynonym | "Biliary atresia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/296-201704-kojin.pdf |
| rdfs:label | "胆道閉鎖症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008867 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0028737 |
| http://nanbyodata.jp/ontology/nanbyo#1000912 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "296" xsd:string |
| dcterms:identifier | "1000912" xsd:string |
| hasExactSynonym | "type II biliary atresia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/296-201704-kojin.pdf |
| rdfs:label | "Ⅰ型胆道閉鎖症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000911 |
| http://nanbyodata.jp/ontology/nanbyo#1000913 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "296" xsd:string |
| dcterms:identifier | "1000913" xsd:string |
| hasExactSynonym | "type I cystic biliary atresia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/296-201704-kojin.pdf |
| rdfs:label | "Ⅰcyst型胆道閉鎖症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000911 |
| http://nanbyodata.jp/ontology/nanbyo#1000914 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "296" xsd:string |
| dcterms:identifier | "1000914" xsd:string |
| hasExactSynonym | "type II biliary atresia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/296-201704-kojin.pdf |
| rdfs:label | "Ⅱ型胆道閉鎖症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000911 |
| http://nanbyodata.jp/ontology/nanbyo#1000915 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "296" xsd:string |
| dcterms:identifier | "1000915" xsd:string |
| hasExactSynonym | "type III biliary atresia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/296-201704-kojin.pdf |
| rdfs:label | "Ⅲ型胆道閉鎖症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000911 |
| http://nanbyodata.jp/ontology/nanbyo#1000916 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "297" xsd:string |
| dcterms:identifier | "1000916" xsd:string |
| hasExactSynonym | "Alagille syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/297-201704-kojin.pdf |
| rdfs:label | "アラジール症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007318 |
| http://nanbyodata.jp/ontology/nanbyo#1000918 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "297" xsd:string |
| dcterms:identifier | "1000918" xsd:string |
| hasExactSynonym | "Atypical Alagille Syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/297-201704-kojin.pdf |
| rdfs:label | "アラジール症候群非典型例" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000916 |
| http://nanbyodata.jp/ontology/nanbyo#1000919 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "298" xsd:string |
| dcterms:identifier | "1000919" xsd:string |
| hasExactSynonym | "Hereditary pancreatitis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/298-201704-kojin.pdf |
| rdfs:label | "遺伝性膵炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008185 |
| http://nanbyodata.jp/ontology/nanbyo#1000920 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000014 |
| has_notification_number | "299" xsd:string |
| dcterms:identifier | "1000920" xsd:string |
| hasExactSynonym | "Cystic fibrosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/299-201704-kojin.pdf |
| rdfs:label | "嚢胞性線維症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009061 |
| http://nanbyodata.jp/ontology/nanbyo#1000921 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "300" xsd:string |
| dcterms:identifier | "1000921" xsd:string |
| hasExactSynonym | "IgG4-related disease" @en |
| rdfs:isDefinedBy | file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl |
| rdfs:label | "IgG4関連疾患" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017287 |
| http://nanbyodata.jp/ontology/nanbyo#1000922 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "300" xsd:string |
| dcterms:identifier | "1000922" xsd:string |
| hasExactSynonym | "IgG4-related disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/300-01-201704-kojin.pdf |
| rdfs:label | "IgG4関連疾患包括" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000921 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017287 |
| http://nanbyodata.jp/ontology/nanbyo#1000923 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "300" xsd:string |
| dcterms:identifier | "1000923" xsd:string |
| hasExactSynonym | "Autoimmune pancreatitis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/300-02-201704-kojin.pdf |
| rdfs:label | "自己免疫性膵炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000921 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015175 |
| http://nanbyodata.jp/ontology/nanbyo#1000924 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "300" xsd:string |
| dcterms:identifier | "1000924" xsd:string |
| hasExactSynonym | "diffuse-type autoimmune pancreatitis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/300-02-201704-kojin.pdf |
| rdfs:label | "びまん型自己免疫性膵炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000923 |
| http://nanbyodata.jp/ontology/nanbyo#1000925 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "300" xsd:string |
| dcterms:identifier | "1000925" xsd:string |
| hasExactSynonym | "focal-type autoimmune pancreatitis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/300-02-201704-kojin.pdf |
| rdfs:label | "限局型自己免疫性膵炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000923 |
| http://nanbyodata.jp/ontology/nanbyo#1000926 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "300" xsd:string |
| dcterms:identifier | "1000926" xsd:string |
| hasExactSynonym | "IgG4-related sclerosing cholangitis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/300-03-201704-kojin.pdf |
| rdfs:label | "IgG4関連硬化性胆管炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000921 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018645 |
| http://nanbyodata.jp/ontology/nanbyo#1000927 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "300" xsd:string |
| dcterms:identifier | "1000927" xsd:string |
| hasExactSynonym | "IgG4 related dacryoadenitis and sialadenitis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/300-04-201704-kojin.pdf |
| rdfs:label | "IgG4関連涙腺・眼窩および唾液腺病変" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000921 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019191 |
| http://nanbyodata.jp/ontology/nanbyo#1000928 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "300" xsd:string |
| dcterms:identifier | "1000928" xsd:string |
| hasExactSynonym | "IgG4-related kidney disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/300-05-201704-kojin.pdf |
| rdfs:label | "IgG4関連腎臓病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000921 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018671 |
| http://nanbyodata.jp/ontology/nanbyo#1000929 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
| has_notification_number | "301" xsd:string |
| dcterms:identifier | "1000929" xsd:string |
| hasExactSynonym | "Macular dystrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/301-201704-kojin.pdf |
| rdfs:label | "黄斑ジストロフィー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000930 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
| has_notification_number | "301" xsd:string |
| dcterms:identifier | "1000930" xsd:string |
| hasExactSynonym | "Best vitelliform macular dystrophy" @en |
| hasExactSynonym | "Vitelliform macular dystrophy" @en |
| hasExactSynonym | "ベスト病" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/301-201704-kojin.pdf |
| rdfs:label | "卵黄様黄斑ジストロフィー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000929 |
| http://nanbyodata.jp/ontology/nanbyo#1000931 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
| has_notification_number | "301" xsd:string |
| dcterms:identifier | "1000931" xsd:string |
| hasExactSynonym | "Stargardt disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/301-201704-kojin.pdf |
| rdfs:label | "Stargardt病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000929 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019353 |
| http://nanbyodata.jp/ontology/nanbyo#1000932 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
| has_notification_number | "301" xsd:string |
| dcterms:identifier | "1000932" xsd:string |
| hasExactSynonym | "Occult macular dystrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/301-201704-kojin.pdf |
| rdfs:label | "オカルト黄斑ジストロフィー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000929 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013316 |
| http://nanbyodata.jp/ontology/nanbyo#1000933 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
| has_notification_number | "301" xsd:string |
| dcterms:identifier | "1000933" xsd:string |
| hasExactSynonym | "Cone-rod dystrophy and cone dystrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/301-201704-kojin.pdf |
| rdfs:label | "錐体ジストロフィー、および錐体杆体ジストロフィー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000929 |
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|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
| has_notification_number | "301" xsd:string |
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| hasExactSynonym | "COD" @en |
| hasExactSynonym | "Cone dystrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/301-201704-kojin.pdf |
| rdfs:label | "錐体ジストロフィー" @ja |
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|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
| has_notification_number | "301" xsd:string |
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| hasExactSynonym | "CORD" @en |
| hasExactSynonym | "Cone-rod dystrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/301-201704-kojin.pdf |
| rdfs:label | "錐体杆体ジストロフィー" @ja |
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|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
| has_notification_number | "301" xsd:string |
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| hasExactSynonym | "X-linked juvenile retinoschisis" @en |
| hasExactSynonym | "X染色体若年網膜分離症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/301-201704-kojin.pdf |
| rdfs:label | "X連鎖性若年網膜分離症" @ja |
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|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
| has_notification_number | "301" xsd:string |
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| hasExactSynonym | "Central areolar choroidal dystrophy" @en |
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| rdfs:label | "中心性輪紋状脈絡膜ジストロフィー" @ja |
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| http://nanbyodata.jp/ontology/nanbyo#1000938 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
| has_notification_number | "302" xsd:string |
| dcterms:identifier | "1000938" xsd:string |
| hasExactSynonym | "Leber hereditary optic neuropathy" @en |
| hasExactSynonym | "レーベル病" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/302-201704-kojin.pdf |
| rdfs:label | "レーベル遺伝性視神経症" @ja |
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|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
| has_notification_number | "303" xsd:string |
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| hasExactSynonym | "Usher syndrome" @en |
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| rdfs:label | "アッシャー症候群" @ja |
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|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
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| hasExactSynonym | "Usher Syndrome Type I" @en |
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| rdfs:label | "アッシャー症候群１型" @ja |
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| http://nanbyodata.jp/ontology/nanbyo#1000941 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
| has_notification_number | "303" xsd:string |
| dcterms:identifier | "1000941" xsd:string |
| hasExactSynonym | "Usher Syndrome Type II" @en |
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| rdfs:label | "アッシャー症候群２型" @ja |
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| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016484 |
| http://nanbyodata.jp/ontology/nanbyo#1000942 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
| has_notification_number | "303" xsd:string |
| dcterms:identifier | "1000942" xsd:string |
| hasExactSynonym | "Usher Syndrome Type III" @en |
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| rdfs:label | "アッシャー症候群３型" @ja |
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| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010170 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016485 |
| http://nanbyodata.jp/ontology/nanbyo#1000943 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000016 |
| has_notification_number | "304" xsd:string |
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| hasExactSynonym | "Juvenile-onset bilateral sensorineural hearing loss" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/304-201704-kojin.pdf |
| rdfs:label | "若年発症型両側性感音難聴" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000944 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000016 |
| has_notification_number | "305" xsd:string |
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| hasExactSynonym | "Delayed endolymphatic hydrops" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/305-201704-kojin.pdf |
| rdfs:label | "遅発性内リンパ水腫" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000945 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "306" xsd:string |
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| hasExactSynonym | "Eosinophilic sinusitis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/306-201704-kojin.pdf |
| rdfs:label | "好酸球性副鼻腔炎" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000946 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "307" xsd:string |
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| hasExactSynonym | "Canavan disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/307-201704-kojin.pdf |
| rdfs:label | "カナバン病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010079 |
| http://nanbyodata.jp/ontology/nanbyo#1000947 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "308" xsd:string |
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| hasExactSynonym | "Leukoencephalopathy" @en |
| rdfs:isDefinedBy | file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl |
| rdfs:label | "進行性白質脳症" @ja |
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| http://nanbyodata.jp/ontology/nanbyo#1000948 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "308" xsd:string |
| dcterms:identifier | "1000948" xsd:string |
| hasExactSynonym | "Megalencephalic leukoencephalopathy with subcortical cysts" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/308-01-201704-kojin.pdf |
| rdfs:label | "皮質下嚢胞をもつ大頭型白質脳症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000947 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011391 |
| http://nanbyodata.jp/ontology/nanbyo#1000949 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "308" xsd:string |
| dcterms:identifier | "1000949" xsd:string |
| hasExactSynonym | "Leukoencephalopathy with vanishing white matter" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/308-02-201704-kojin.pdf |
| rdfs:label | "白質消失病" @ja |
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| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011380 |
| http://nanbyodata.jp/ontology/nanbyo#1000950 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "308" xsd:string |
| dcterms:identifier | "1000950" xsd:string |
| hasExactSynonym | "Leukoencephalopathy, progressive, with ovarian failure" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/308-03-201704-kojin.pdf |
| rdfs:label | "卵巣機能障害を伴う進行性白質脳症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000947 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0014387 |
| http://nanbyodata.jp/ontology/nanbyo#1000951 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "309" xsd:string |
| dcterms:identifier | "1000951" xsd:string |
| hasExactSynonym | "PME" @en |
| hasExactSynonym | "progressive myoclonus epilepsy" @en |
| rdfs:isDefinedBy | file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl |
| rdfs:label | "進行性ミオクローヌスてんかん" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020074 |
| http://nanbyodata.jp/ontology/nanbyo#1000952 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "309" xsd:string |
| dcterms:identifier | "1000952" xsd:string |
| hasExactSynonym | "ULD" @en |
| hasExactSynonym | "Unverricht-Lundborg disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/309-01-201704-kojin.pdf |
| rdfs:label | "ウンフェルリヒト・ルンドボルグ病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000951 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009698 |
| http://nanbyodata.jp/ontology/nanbyo#1000953 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "309" xsd:string |
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| hasExactSynonym | "Lafora disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/309-02-201704-kojin.pdf |
| rdfs:label | "ラフォラ病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000951 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009697 |
| http://nanbyodata.jp/ontology/nanbyo#1000954 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "309" xsd:string |
| dcterms:identifier | "1000954" xsd:string |
| hasExactSynonym | "BAFME" @en |
| hasExactSynonym | "benign adult familial myoclonus epilepsy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/309-03-201704-kojin.pdf |
| rdfs:label | "良性成人型家族性ミオクローヌスてんかん" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000951 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019448 |
| http://nanbyodata.jp/ontology/nanbyo#1000955 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "310" xsd:string |
| dcterms:identifier | "1000955" xsd:string |
| hasExactSynonym | "Malformative syndrome" @en |
| rdfs:isDefinedBy | file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl |
| rdfs:label | "先天異常症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000956 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "310" xsd:string |
| dcterms:identifier | "1000956" xsd:string |
| hasExactSynonym | "Partial trisomy 1q" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/310-01-201704-kojin.pdf |
| rdfs:label | "1q部分重複症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000955 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016952 |
| http://nanbyodata.jp/ontology/nanbyo#1000957 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "310" xsd:string |
| dcterms:identifier | "1000957" xsd:string |
| hasExactSynonym | "9q34 deletion syndrome" @en |
| hasExactSynonym | "Kleefstra syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/310-02-201704-kojin.pdf |
| rdfs:label | "9q34欠失症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000955 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012455 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0027407 |
| http://nanbyodata.jp/ontology/nanbyo#1000958 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "310" xsd:string |
| dcterms:identifier | "1000958" xsd:string |
| hasExactSynonym | "Cornelia de lange syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/310-03-201704-kojin.pdf |
| rdfs:label | "コルネリア・デランゲ症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000955 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016033 |
| http://nanbyodata.jp/ontology/nanbyo#1000959 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "310" xsd:string |
| dcterms:identifier | "1000959" xsd:string |
| hasExactSynonym | "Smith-lemli-opitz syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/310-04-201704-kojin.pdf |
| rdfs:label | "スミス・レムリ・オピッツ症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000955 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010035 |
| http://nanbyodata.jp/ontology/nanbyo#1000960 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "311" xsd:string |
| dcterms:identifier | "1000960" xsd:string |
| hasExactSynonym | "Congenital tricuspid atresia" @en |
| hasExactSynonym | "Tricuspid atresia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/311-201704-kojin.pdf |
| rdfs:label | "先天性三尖弁狭窄症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011514 |
| http://nanbyodata.jp/ontology/nanbyo#1000961 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "312" xsd:string |
| dcterms:identifier | "1000961" xsd:string |
| hasExactSynonym | "Congenital mitral stenosis" @en |
| hasExactSynonym | "mitral stenosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/312-201704-kojin.pdf |
| rdfs:label | "先天性僧帽弁狭窄症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005852 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020398 |
| http://nanbyodata.jp/ontology/nanbyo#1000962 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "313" xsd:string |
| dcterms:identifier | "1000962" xsd:string |
| hasExactSynonym | "Congenital pulmonary vein stenosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/313-201704-kojin.pdf |
| rdfs:label | "先天性肺静脈狭窄症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000963 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000006 |
| has_notification_number | "314" xsd:string |
| dcterms:identifier | "1000963" xsd:string |
| hasExactSynonym | "PA sling" @en |
| hasExactSynonym | "Pulmonary artery sling" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/314-201704-kojin.pdf |
| rdfs:label | "左肺動脈右肺動脈起始症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000964 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "315" xsd:string |
| dcterms:identifier | "1000964" xsd:string |
| hasExactSynonym | "nail-patella syndrome/LMX1B-Associated Nephropathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/315-201704-kojin.pdf |
| rdfs:label | "ネイルパテラ症候群（爪膝蓋骨症候群）／ＬＭＸ１Ｂ関連腎症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000965 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "315" xsd:string |
| dcterms:identifier | "1000965" xsd:string |
| hasExactSynonym | "nail-patella syndrome" @en |
| hasExactSynonym | "爪膝蓋骨症候群" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/315-201704-kojin.pdf |
| rdfs:label | "ネイルパテラ症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000964 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008061 |
| http://nanbyodata.jp/ontology/nanbyo#1000966 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000008 |
| has_notification_number | "315" xsd:string |
| dcterms:identifier | "1000966" xsd:string |
| hasExactSynonym | "LMX1B-Associated Nephropathy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/315-201704-kojin.pdf |
| rdfs:label | "ＬＭＸ１Ｂ関連腎症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000964 |
| http://nanbyodata.jp/ontology/nanbyo#1000967 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "316" xsd:string |
| dcterms:identifier | "1000967" xsd:string |
| hasExactSynonym | "carnitine cycle disorders" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/316-201704-kojin.pdf |
| rdfs:label | "カルニチン回路異常症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000968 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "316" xsd:string |
| dcterms:identifier | "1000968" xsd:string |
| hasExactSynonym | "Carnitine Palmitoyltransferase I deficiency" @en |
| hasExactSynonym | "カルニチンパルミトイルトランスフェラーゼⅠ欠損症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/316-201704-kojin.pdf |
| rdfs:label | "CPT1欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000967 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009705 |
| http://nanbyodata.jp/ontology/nanbyo#1000969 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "316" xsd:string |
| dcterms:identifier | "1000969" xsd:string |
| hasExactSynonym | "Carnitine Palmitoyltransferase II deficiency" @en |
| hasExactSynonym | "カルニチンパルミトイルトランスフェラーゼⅡ欠損症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/316-201704-kojin.pdf |
| rdfs:label | "CPT2欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000967 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015515 |
| http://nanbyodata.jp/ontology/nanbyo#1000970 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "316" xsd:string |
| dcterms:identifier | "1000970" xsd:string |
| hasExactSynonym | "Carnitine-acylcarnitine translocase deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/316-201704-kojin.pdf |
| rdfs:label | "CACT欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000967 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008918 |
| http://nanbyodata.jp/ontology/nanbyo#1000971 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "316" xsd:string |
| dcterms:identifier | "1000971" xsd:string |
| hasExactSynonym | "CDSP" @en |
| hasExactSynonym | "Carnitine deficiency, systemic primary" @en |
| hasExactSynonym | "Carnitine uptake defect" @en |
| hasExactSynonym | "Systemic primary carnitine deficiency" @en |
| hasExactSynonym | "全身性カルニチン欠乏症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/316-201704-kojin.pdf |
| rdfs:label | "OCTN-2異常症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000967 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008919 |
| http://nanbyodata.jp/ontology/nanbyo#1000972 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "317" xsd:string |
| dcterms:identifier | "1000972" xsd:string |
| hasExactSynonym | "Mitochondrial Trifunctional protein deficiency" @en |
| hasExactSynonym | "TFP" @en |
| hasExactSynonym | "Trifunctional protein deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/317-201704-kojin.pdf |
| rdfs:label | "三頭酵素欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012172 |
| http://nanbyodata.jp/ontology/nanbyo#1000973 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "317" xsd:string |
| dcterms:identifier | "1000973" xsd:string |
| hasExactSynonym | "Trifunctional protein deficiency,lethal type" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/317-201704-kojin.pdf |
| rdfs:label | "新生児期発症型三頭酵素欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000972 |
| http://nanbyodata.jp/ontology/nanbyo#1000974 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "317" xsd:string |
| dcterms:identifier | "1000974" xsd:string |
| hasExactSynonym | "Trifunctional protein deficiency,intermediate type" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/317-201704-kojin.pdf |
| rdfs:label | "乳幼児期発症型三頭酵素欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000972 |
| http://nanbyodata.jp/ontology/nanbyo#1000975 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "317" xsd:string |
| dcterms:identifier | "1000975" xsd:string |
| hasExactSynonym | "Trifunctional protein deficiency,myopathic type" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/317-201704-kojin.pdf |
| rdfs:label | "遅発型三頭酵素欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000972 |
| http://nanbyodata.jp/ontology/nanbyo#1000976 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "318" xsd:string |
| dcterms:identifier | "1000976" xsd:string |
| hasExactSynonym | "Citrin deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/318-201704-kojin.pdf |
| rdfs:label | "シトリン欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011326 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016602 |
| http://nanbyodata.jp/ontology/nanbyo#1000977 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "318" xsd:string |
| dcterms:identifier | "1000977" xsd:string |
| hasExactSynonym | "NICCD" @en |
| hasExactSynonym | "neonatal intrahepatic cholestasis caused by citrin deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/318-201704-kojin.pdf |
| rdfs:label | "新生児肝内胆汁うっ滞症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000976 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011601 |
| http://nanbyodata.jp/ontology/nanbyo#1000978 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "318" xsd:string |
| dcterms:identifier | "1000978" xsd:string |
| hasExactSynonym | "CTLN2" @en |
| hasExactSynonym | "adult-onset type II citrullinemia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/318-201704-kojin.pdf |
| rdfs:label | "成人発症Ⅱ型シトルリン血症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000976 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011326 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016603 |
| http://nanbyodata.jp/ontology/nanbyo#1000979 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "318" xsd:string |
| dcterms:identifier | "1000979" xsd:string |
| hasExactSynonym | "FTTDCD" @en |
| hasExactSynonym | "Failure to thrive and dyslipidemia caused by citrin deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/318-201704-kojin.pdf |
| rdfs:label | "適応・代償期シトリン欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000976 |
| http://nanbyodata.jp/ontology/nanbyo#1000980 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "319" xsd:string |
| dcterms:identifier | "1000980" xsd:string |
| hasExactSynonym | "SRD" @en |
| hasExactSynonym | "Sepiapterin reductase deficiency" @en |
| hasExactSynonym | "ＳＲ欠損症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/319-201704-kojin.pdf |
| rdfs:label | "セピアプテリン還元酵素欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012994 |
| http://nanbyodata.jp/ontology/nanbyo#1000981 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000002 |
| has_notification_number | "320" xsd:string |
| dcterms:identifier | "1000981" xsd:string |
| hasExactSynonym | "GPI欠損症" @ja |
| hasExactSynonym | "IGD" @en |
| hasExactSynonym | "Inherited GPI deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/320-201704-kojin.pdf |
| rdfs:label | "先天性グリコシルホスファチジルイノシトール欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000982 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "321" xsd:string |
| dcterms:identifier | "1000982" xsd:string |
| hasExactSynonym | "NKH" @en |
| hasExactSynonym | "nonketotic hyperglycinemia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/321-201704-kojin.pdf |
| rdfs:label | "非ケトーシス型高グリシン血症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009070 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011612 |
| http://nanbyodata.jp/ontology/nanbyo#1000983 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "321" xsd:string |
| dcterms:identifier | "1000983" xsd:string |
| hasExactSynonym | "Neonatal nonketotic hyperglycinemia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/321-201704-kojin.pdf |
| rdfs:label | "新生児型非ケトーシス型高グリシン血症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000982 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017353 |
| http://nanbyodata.jp/ontology/nanbyo#1000984 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "321" xsd:string |
| dcterms:identifier | "1000984" xsd:string |
| hasExactSynonym | "infantile nonketotic hyperglycinemia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/321-201704-kojin.pdf |
| rdfs:label | "乳児型非ケトーシス型高グリシン血症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000982 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017354 |
| http://nanbyodata.jp/ontology/nanbyo#1000985 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "322" xsd:string |
| dcterms:identifier | "1000985" xsd:string |
| hasExactSynonym | "beta-ketothiolase deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/322-201704-kojin.pdf |
| rdfs:label | "β—ケトチオラーゼ欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008760 |
| http://nanbyodata.jp/ontology/nanbyo#1000986 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "323" xsd:string |
| dcterms:identifier | "1000986" xsd:string |
| hasExactSynonym | "Aromatic L-amino acid decarboxylase deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/323-201704-kojin.pdf |
| rdfs:label | "芳香族L－アミノ酸脱炭酸酵素欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012084 |
| http://nanbyodata.jp/ontology/nanbyo#1000987 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "324" xsd:string |
| dcterms:identifier | "1000987" xsd:string |
| hasExactSynonym | "Methylglutaconic aciduria" @en |
| rdfs:isDefinedBy | file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl |
| rdfs:label | "メチルグルタコン酸尿症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000988 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "324" xsd:string |
| dcterms:identifier | "1000988" xsd:string |
| hasExactSynonym | "3-methylglutaconic aciduria type I" @en |
| hasExactSynonym | "3-methylglutaconyl-CoA hydratase deficiency" @en |
| hasExactSynonym | "メチルグルタコニルCoAヒドラターゼ欠損症" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/324-01-201704-kojin.pdf |
| rdfs:label | "メチルグルタコン酸尿症I型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000987 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009610 |
| http://nanbyodata.jp/ontology/nanbyo#1000989 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "324" xsd:string |
| dcterms:identifier | "1000989" xsd:string |
| hasExactSynonym | "3-methylglutaconicaciduria type II" @en |
| hasExactSynonym | "Barth syndrome" @en |
| hasExactSynonym | "Barth症候群" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/324-02-201704-kojin.pdf |
| rdfs:label | "メチルグルタコン酸尿症II型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000987 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010543 |
| http://nanbyodata.jp/ontology/nanbyo#1000990 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "324" xsd:string |
| dcterms:identifier | "1000990" xsd:string |
| hasExactSynonym | "3-methylglutaconic aciduria type III" @en |
| hasExactSynonym | "Costeff syndrome" @en |
| hasExactSynonym | "Costeff症候群" @ja |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/324-03-201704-kojin.pdf |
| rdfs:label | "メチルグルタコン酸尿症III型" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000987 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009787 |
| http://nanbyodata.jp/ontology/nanbyo#1000991 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "325" xsd:string |
| dcterms:identifier | "1000991" xsd:string |
| hasExactSynonym | "hereditary autoinflammatory diseases" @en |
| rdfs:isDefinedBy | file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl |
| rdfs:label | "遺伝性自己炎症疾患" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000992 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "325" xsd:string |
| dcterms:identifier | "1000992" xsd:string |
| hasExactSynonym | "NLRC4 inflammasomopathies" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/325-01-201804-kojin.pdf |
| rdfs:label | "NLRC４異常症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000991 |
| http://nanbyodata.jp/ontology/nanbyo#1000993 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "325" xsd:string |
| dcterms:identifier | "1000993" xsd:string |
| hasExactSynonym | "Adenosine deaminase 2 deficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/325-02-201804-kojin.pdf |
| rdfs:label | "ADA２欠損症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000991 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0014306 |
| http://nanbyodata.jp/ontology/nanbyo#1000994 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "325" xsd:string |
| dcterms:identifier | "1000994" xsd:string |
| hasExactSynonym | "AGS" @en |
| hasExactSynonym | "Aicardi-Goutières Syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/325-03-201804-kojin.pdf |
| rdfs:label | "エカルディ・グティエール症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000991 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009165 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018866 |
| http://nanbyodata.jp/ontology/nanbyo#1000995 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000005 |
| has_notification_number | "325" xsd:string |
| dcterms:identifier | "1000995" xsd:string |
| hasExactSynonym | "A20 haploinsufficiency" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/325-04-201804-kojin.pdf |
| rdfs:label | "A20ハプロ不全症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1000991 |
| http://nanbyodata.jp/ontology/nanbyo#1000996 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000003 |
| has_notification_number | "326" xsd:string |
| dcterms:identifier | "1000996" xsd:string |
| hasExactSynonym | "Osteopetrosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/326-201704-kojin.pdf |
| rdfs:label | "大理石骨病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017198 |
| http://nanbyodata.jp/ontology/nanbyo#1000997 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "327" xsd:string |
| dcterms:identifier | "1000997" xsd:string |
| hasExactSynonym | "Idiopathic thrombosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/327-201704-kojin.pdf |
| rdfs:label | "特発性血栓症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1000998 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
| has_notification_number | "328" xsd:string |
| dcterms:identifier | "1000998" xsd:string |
| hasExactSynonym | "ASGD1" @en |
| hasExactSynonym | "Anterior segment dysgenesis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/328-201704-kojin.pdf |
| rdfs:label | "前眼部形成異常" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007138 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019503 |
| http://nanbyodata.jp/ontology/nanbyo#1000999 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
| has_notification_number | "329" xsd:string |
| dcterms:identifier | "1000999" xsd:string |
| hasExactSynonym | "Aniridia" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/329-201804-kojin.pdf |
| rdfs:label | "無虹彩症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019172 |
| http://nanbyodata.jp/ontology/nanbyo#1001000 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
| has_notification_number | "330" xsd:string |
| dcterms:identifier | "1001000" xsd:string |
| hasExactSynonym | "Congenital tracheal stenosis/Congenital Subglottic Stenosis" @en |
| rdfs:isDefinedBy | file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl |
| rdfs:label | "先天性気管狭窄症／先天性声門下狭窄症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1001001 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
| has_notification_number | "330" xsd:string |
| dcterms:identifier | "1001001" xsd:string |
| hasExactSynonym | "CTS" @en |
| hasExactSynonym | "Congenital tracheal stenosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/330-01-201804-kojin.pdf |
| rdfs:label | "先天性気管狭窄症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1001000 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007275 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011340 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020730 |
| http://nanbyodata.jp/ontology/nanbyo#1001002 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000011 |
| has_notification_number | "330" xsd:string |
| dcterms:identifier | "1001002" xsd:string |
| hasExactSynonym | "Congenital Subglottic Stenosis" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/330-02-201804-kojin.pdf |
| rdfs:label | "先天性声門下狭窄症" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#1001000 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015395 |
| http://nanbyodata.jp/ontology/nanbyo#1001003 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000007 |
| has_notification_number | "331" xsd:string |
| dcterms:identifier | "1001003" xsd:string |
| hasExactSynonym | "Idiopathic multicentric Castleman's disease" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/331-201804-kojin.pdf |
| rdfs:label | "特発性多中心性キャッスルマン病" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#1001004 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000012 |
| has_notification_number | "332" xsd:string |
| dcterms:identifier | "1001004" xsd:string |
| hasExactSynonym | "gelatinous drop-like corneal dystrophy" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/332-201806-kojin.pdf |
| rdfs:label | "膠様滴状角膜ジストロフィー" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008777 |
| http://nanbyodata.jp/ontology/nanbyo#1001005 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#0000015 |
| has_notification_number | "333" xsd:string |
| dcterms:identifier | "1001005" xsd:string |
| hasExactSynonym | "Hutchinson-Gilford syndrome" @en |
| rdfs:isDefinedBy | http://www.nanbyou.or.jp/upload_files/File/333-201806-kojin.pdf |
| rdfs:label | "ハッチンソン・ギルフォード症候群" @ja |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008310 |
| http://nanbyodata.jp/ontology/nanbyo#3000001 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "1" xsd:string |
| dcterms:identifier | "3000001" xsd:string |
| hasExactSynonym | "B-cell precursor lymphoblastic leukaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_01_001_01.pdf |
| rdfs:label | "前駆B細胞急性リンパ性白血病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_01_001/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000002 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "2" xsd:string |
| dcterms:identifier | "3000002" xsd:string |
| hasExactSynonym | "Mature B-cell lymphoblastic leukaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_01_002_01.pdf |
| rdfs:label | "成熟B細胞急性リンパ性白血病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_01_002/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000003 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "3" xsd:string |
| dcterms:identifier | "3000003" xsd:string |
| hasExactSynonym | "T-cell lymphoblastic leukaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_01_003_01.pdf |
| rdfs:label | "T細胞急性リンパ性白血病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_01_003/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000004 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "4" xsd:string |
| dcterms:identifier | "3000004" xsd:string |
| hasExactSynonym | "Acute myeloid leukaemia with minimal differentiation" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_01_004_01.pdf |
| rdfs:label | "急性骨髄性白血病、最未分化" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_01_004/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000005 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "5" xsd:string |
| dcterms:identifier | "3000005" xsd:string |
| hasExactSynonym | "Acute myeloid leukaemia without maturation" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_01_005_01.pdf |
| rdfs:label | "成熟を伴わない急性骨髄性白血病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_01_005/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000006 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "6" xsd:string |
| dcterms:identifier | "3000006" xsd:string |
| hasExactSynonym | "Acute myeloid leukaemia with maturation" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_01_006_01.pdf |
| rdfs:label | "成熟を伴う急性骨髄性白血病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_01_006/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000007 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "7" xsd:string |
| dcterms:identifier | "3000007" xsd:string |
| hasExactSynonym | "Acute promyelocytic leukaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_01_007_01.pdf |
| rdfs:label | "急性前骨髄球性白血病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_01_007/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000008 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "8" xsd:string |
| dcterms:identifier | "3000008" xsd:string |
| hasExactSynonym | "Acute monocytic leukaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_01_008_01.pdf |
| rdfs:label | "急性骨髄単球性白血病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_01_008/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000009 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "9" xsd:string |
| dcterms:identifier | "3000009" xsd:string |
| hasExactSynonym | "Acute megakaryoblastic leukaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_01_009_01.pdf |
| rdfs:label | "急性単球性白血病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_01_009/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018872 |
| http://nanbyodata.jp/ontology/nanbyo#3000010 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "10" xsd:string |
| dcterms:identifier | "3000010" xsd:string |
| hasExactSynonym | "Acute erythremia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_01_010_01.pdf |
| rdfs:label | "急性赤白血病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_01_010/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000011 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "11" xsd:string |
| dcterms:identifier | "3000011" xsd:string |
| hasExactSynonym | "Acute megakaryoblastic leukaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_01_011_01.pdf |
| rdfs:label | "急性巨核芽球性白血病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_01_011/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018872 |
| http://nanbyodata.jp/ontology/nanbyo#3000012 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "12" xsd:string |
| dcterms:identifier | "3000012" xsd:string |
| hasExactSynonym | "NK cell leukaemia" @en |
| hasExactSynonym | "ナチュラルキラー細胞白血病" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_01_012_01.pdf |
| rdfs:label | "NK細胞白血病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_01_012/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000013 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "13" xsd:string |
| dcterms:identifier | "3000013" xsd:string |
| hasExactSynonym | "CML" @en |
| hasExactSynonym | "Chronic myeloid leukaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_01_013_01.pdf |
| rdfs:label | "慢性骨髄性白血病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_01_013/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001014 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011996 |
| http://nanbyodata.jp/ontology/nanbyo#3000014 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "14" xsd:string |
| dcterms:identifier | "3000014" xsd:string |
| hasExactSynonym | "Chronic myelomonocytic leukaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_01_014_01.pdf |
| rdfs:label | "慢性骨髄単球性白血病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_01_014/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000015 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "15" xsd:string |
| dcterms:identifier | "3000015" xsd:string |
| hasExactSynonym | "Juvenile myelomonocytic leukaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_01_015_01.pdf |
| rdfs:label | "若年性骨髄単球性白血病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_01_015/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000016 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "16" xsd:string |
| dcterms:identifier | "3000016" xsd:string |
| hasExactSynonym | "Other leukaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_01_016_01.pdf |
| rdfs:label | "1から15までに掲げるもののほか、白血病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_01_016/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000017 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "16" xsd:string |
| dcterms:identifier | "3000017" xsd:string |
| hasExactSynonym | "AUL" @en |
| hasExactSynonym | "Acute leukemia of ambiguous lineage" @en |
| hasExactSynonym | "Acute unclassified leukemia" @en |
| hasExactSynonym | "Acute undifferentiated leukemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_01_016_01.pdf |
| rdfs:label | "急性未分化型白血病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_01_016/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000016 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019460 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020321 |
| http://nanbyodata.jp/ontology/nanbyo#3000018 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "16" xsd:string |
| dcterms:identifier | "3000018" xsd:string |
| hasExactSynonym | "MPAL" @en |
| hasExactSynonym | "Mixed phenotype acute leukemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_01_016_01.pdf |
| rdfs:label | "混合型急性白血病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_01_016/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000016 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019460 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020743 |
| http://nanbyodata.jp/ontology/nanbyo#3000019 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "17" xsd:string |
| dcterms:identifier | "3000019" xsd:string |
| hasExactSynonym | "Myelodysplastic syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_02_017_01.pdf |
| rdfs:label | "骨髄異形成症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_02_017/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018881 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0044873 |
| http://nanbyodata.jp/ontology/nanbyo#3000020 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "18" xsd:string |
| dcterms:identifier | "3000020" xsd:string |
| hasExactSynonym | "Mature B-cell lymphoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_03_018_01.pdf |
| rdfs:label | "成熟B細胞リンパ腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_03_018/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000021 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "19" xsd:string |
| dcterms:identifier | "3000021" xsd:string |
| hasExactSynonym | "Anaplastic large cell lymphoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_03_019_01.pdf |
| rdfs:label | "未分化大細胞リンパ腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_03_019/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020325 |
| http://nanbyodata.jp/ontology/nanbyo#3000022 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "20" xsd:string |
| dcterms:identifier | "3000022" xsd:string |
| hasExactSynonym | "Precursor B lymphoblastic lymphoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_03_020_01.pdf |
| rdfs:label | "Bリンパ芽球性リンパ腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_03_020/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000023 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "21" xsd:string |
| dcterms:identifier | "3000023" xsd:string |
| hasExactSynonym | "Precursor T lymphoblastic lymphoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_03_021_01.pdf |
| rdfs:label | "Tリンパ芽球性リンパ腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_03_021/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0044917 |
| http://nanbyodata.jp/ontology/nanbyo#3000024 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "22" xsd:string |
| dcterms:identifier | "3000024" xsd:string |
| hasExactSynonym | "HL" @en |
| hasExactSynonym | "Hodgkin lymphoma" @en |
| hasExactSynonym | "Hodgkinリンパ腫" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_03_022_01.pdf |
| rdfs:label | "ホジキンリンパ腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_03_022/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0004952 |
| http://nanbyodata.jp/ontology/nanbyo#3000025 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "23" xsd:string |
| dcterms:identifier | "3000025" xsd:string |
| hasExactSynonym | "Other malignant lymphomas" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_03_023_01.pdf |
| rdfs:label | "18から22までに掲げるもののほか、リンパ腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_03_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000026 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "23" xsd:string |
| dcterms:identifier | "3000026" xsd:string |
| hasExactSynonym | "Pediatric follicular lymphoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_03_023_01.pdf |
| rdfs:label | "小児濾胞性リンパ腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_03_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000025 |
| http://nanbyodata.jp/ontology/nanbyo#3000027 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "23" xsd:string |
| dcterms:identifier | "3000027" xsd:string |
| hasExactSynonym | "Extranodal NK/T-cell lymphoma, nasal type" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_03_023_01.pdf |
| rdfs:label | "節外性NK/T細胞リンパ腫-鼻型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_03_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000025 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019472 |
| http://nanbyodata.jp/ontology/nanbyo#3000028 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "23" xsd:string |
| dcterms:identifier | "3000028" xsd:string |
| hasExactSynonym | "Peripheral T-cell lymphoma, not otherwise specified" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_03_023_01.pdf |
| rdfs:label | "末梢性T細胞リンパ腫-非特定型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_03_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000025 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0004964 |
| http://nanbyodata.jp/ontology/nanbyo#3000029 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "23" xsd:string |
| dcterms:identifier | "3000029" xsd:string |
| hasExactSynonym | "Angioimmunoblastic T-cell lymphoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_03_023_01.pdf |
| rdfs:label | "血管免疫芽球性T細胞リンパ腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_03_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000025 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0004977 |
| http://nanbyodata.jp/ontology/nanbyo#3000030 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "23" xsd:string |
| dcterms:identifier | "3000030" xsd:string |
| hasExactSynonym | "Sucutaneous panniculitis-like T-cell lymphoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_03_023_01.pdf |
| rdfs:label | "皮下脂肪織炎様T細胞リンパ腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_03_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000025 |
| http://nanbyodata.jp/ontology/nanbyo#3000031 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "24" xsd:string |
| dcterms:identifier | "3000031" xsd:string |
| hasExactSynonym | "LCH" @en |
| hasExactSynonym | "Langerhans cell histiocytosis" @en |
| hasExactSynonym | "Langerhans細胞組織球症" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_04_024_01.pdf |
| rdfs:label | "ランゲルハンス細胞組織球症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_04_024/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017025 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017029 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018310 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019450 |
| http://nanbyodata.jp/ontology/nanbyo#3000032 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "25" xsd:string |
| dcterms:identifier | "3000032" xsd:string |
| hasExactSynonym | "HLH" @en |
| hasExactSynonym | "Hemophagocytic lymphohistiocytosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_04_025_01.pdf |
| rdfs:label | "血球貪食性リンパ組織球症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_04_025/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015540 |
| http://nanbyodata.jp/ontology/nanbyo#3000033 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "26" xsd:string |
| dcterms:identifier | "3000033" xsd:string |
| hasExactSynonym | "Other histiocytosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_04_026_01.pdf |
| rdfs:label | "24及び25に掲げるもののほか、組織球症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_04_026/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000034 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "26" xsd:string |
| dcterms:identifier | "3000034" xsd:string |
| hasExactSynonym | "Follicular dendritic cell sarcoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_04_026_01.pdf |
| rdfs:label | "濾胞樹状細胞肉腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_04_026/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000033 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0004380 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005764 |
| http://nanbyodata.jp/ontology/nanbyo#3000035 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "26" xsd:string |
| dcterms:identifier | "3000035" xsd:string |
| hasExactSynonym | "Interdigitating dendritic cell sarcoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_04_026_01.pdf |
| rdfs:label | "指状嵌入樹状細胞肉腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_04_026/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000033 |
| http://nanbyodata.jp/ontology/nanbyo#3000036 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "26" xsd:string |
| dcterms:identifier | "3000036" xsd:string |
| hasExactSynonym | "Langerhans cell sarcoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_04_026_01.pdf |
| rdfs:label | "ランゲルハンス細胞肉腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_04_026/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000033 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019480 |
| http://nanbyodata.jp/ontology/nanbyo#3000037 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "26" xsd:string |
| dcterms:identifier | "3000037" xsd:string |
| hasExactSynonym | "Juvenile xanthogranuloma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_04_026_01.pdf |
| rdfs:label | "若年性黄色肉芽腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_04_026/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000033 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015534 |
| http://nanbyodata.jp/ontology/nanbyo#3000038 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "26" xsd:string |
| dcterms:identifier | "3000038" xsd:string |
| hasExactSynonym | "Erdheim-Chester disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_04_026_01.pdf |
| rdfs:label | "エルドハイム・チェスター病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_04_026/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000033 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018153 |
| http://nanbyodata.jp/ontology/nanbyo#3000039 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "26" xsd:string |
| dcterms:identifier | "3000039" xsd:string |
| hasExactSynonym | "RDD" @en |
| hasExactSynonym | "Rosai-Dorfman disease" @en |
| hasExactSynonym | "Sinus histiocytosis with massive lymphadenopathy" @en |
| hasExactSynonym | "塊状リンパ腺症を伴う洞組織球増多症" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_04_026_01.pdf |
| rdfs:label | "ロサイ・ドルフマン病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_04_026/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000033 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0006412 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0044354 |
| http://nanbyodata.jp/ontology/nanbyo#3000040 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "27" xsd:string |
| dcterms:identifier | "3000040" xsd:string |
| hasExactSynonym | "Neuroblastoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_027_01.pdf |
| rdfs:label | "神経芽腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_027/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005072 |
| http://nanbyodata.jp/ontology/nanbyo#3000041 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "28" xsd:string |
| dcterms:identifier | "3000041" xsd:string |
| hasExactSynonym | "Ganglioneuroblastoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_028_01.pdf |
| rdfs:label | "神経節芽腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_028/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005035 |
| http://nanbyodata.jp/ontology/nanbyo#3000042 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "29" xsd:string |
| dcterms:identifier | "3000042" xsd:string |
| hasExactSynonym | "Retinoblastoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_029_01.pdf |
| rdfs:label | "網膜芽細胞腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_029/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008380 |
| http://nanbyodata.jp/ontology/nanbyo#3000043 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "30" xsd:string |
| dcterms:identifier | "3000043" xsd:string |
| hasExactSynonym | "Nephroblastoma" @en |
| hasExactSynonym | "Wilms tumour" @en |
| hasExactSynonym | "ウィルムス腫瘍" @ja |
| hasExactSynonym | "腎芽腫" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_030_01.pdf |
| rdfs:label | "ウィルムス腫瘍／腎芽腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_030/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008679 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019004 |
| http://nanbyodata.jp/ontology/nanbyo#3000044 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "31" xsd:string |
| dcterms:identifier | "3000044" xsd:string |
| hasExactSynonym | "Clear cell sarcoma of the kidney" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_031_01.pdf |
| rdfs:label | "腎明細胞肉腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_031/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005006 |
| http://nanbyodata.jp/ontology/nanbyo#3000045 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "32" xsd:string |
| dcterms:identifier | "3000045" xsd:string |
| hasExactSynonym | "Renal cell carcinoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_032_01.pdf |
| rdfs:label | "腎細胞癌" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_032/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005086 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005549 |
| http://nanbyodata.jp/ontology/nanbyo#3000046 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "33" xsd:string |
| dcterms:identifier | "3000046" xsd:string |
| hasExactSynonym | "Hepatoblastoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_033_01.pdf |
| rdfs:label | "肝芽腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_033/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007256 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018666 |
| http://nanbyodata.jp/ontology/nanbyo#3000047 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "34" xsd:string |
| dcterms:identifier | "3000047" xsd:string |
| hasExactSynonym | "Hepatocellular carcinoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_034_01.pdf |
| rdfs:label | "肝細胞癌" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007256 |
| http://nanbyodata.jp/ontology/nanbyo#3000050 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "37" xsd:string |
| dcterms:identifier | "3000050" xsd:string |
| hasExactSynonym | "Chondrosarcoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_037_01.pdf |
| rdfs:label | "軟骨肉腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_037/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008977 |
| http://nanbyodata.jp/ontology/nanbyo#3000051 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "38" xsd:string |
| dcterms:identifier | "3000051" xsd:string |
| hasExactSynonym | "Chondroblastoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_038_01.pdf |
| rdfs:label | "軟骨芽細胞腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_038/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0004997 |
| http://nanbyodata.jp/ontology/nanbyo#3000052 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "39" xsd:string |
| dcterms:identifier | "3000052" xsd:string |
| hasExactSynonym | "Malignancy in giant cell tumour of bone" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_039_01.pdf |
| rdfs:label | "悪性骨巨細胞腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_039/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000053 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "40" xsd:string |
| dcterms:identifier | "3000053" xsd:string |
| hasExactSynonym | "Ewing's sarcoma" @en |
| hasExactSynonym | "Ewing肉腫" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_040_01.pdf |
| rdfs:label | "ユーイング肉腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_040/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012817 |
| http://nanbyodata.jp/ontology/nanbyo#3000054 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "41" xsd:string |
| dcterms:identifier | "3000054" xsd:string |
| hasExactSynonym | "primitive neuroectodermal tumors" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_041_01.pdf |
| rdfs:label | "未分化神経外胚葉性腫瘍" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_041/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000055 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "41" xsd:string |
| dcterms:identifier | "3000055" xsd:string |
| hasExactSynonym | "Peripheral primitive neuroectodermal tumors" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_041_01.pdf |
| rdfs:label | "末梢性未分化神経外胚葉性腫瘍" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_041/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000054 |
| http://nanbyodata.jp/ontology/nanbyo#3000056 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "42" xsd:string |
| dcterms:identifier | "3000056" xsd:string |
| hasExactSynonym | "Rhabdomyosarcoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_042_01.pdf |
| rdfs:label | "横紋筋肉腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_042/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005212 |
| http://nanbyodata.jp/ontology/nanbyo#3000057 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "43" xsd:string |
| dcterms:identifier | "3000057" xsd:string |
| hasExactSynonym | "Malignant rhabdoid tumour" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_043_01.pdf |
| rdfs:label | "悪性ラブドイド腫瘍" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_043/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002728 |
| http://nanbyodata.jp/ontology/nanbyo#3000058 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "44" xsd:string |
| dcterms:identifier | "3000058" xsd:string |
| hasExactSynonym | "Undifferentiated sarcoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_044_01.pdf |
| rdfs:label | "未分化肉腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_044/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005102 |
| http://nanbyodata.jp/ontology/nanbyo#3000059 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "45" xsd:string |
| dcterms:identifier | "3000059" xsd:string |
| hasExactSynonym | "Dermatofibrosarcoma protuberans" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_045_01.pdf |
| rdfs:label | "線維形成性小円形細胞腫瘍" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_045/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011934 |
| http://nanbyodata.jp/ontology/nanbyo#3000061 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "47" xsd:string |
| dcterms:identifier | "3000061" xsd:string |
| hasExactSynonym | "Synovial sarcoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_047_01.pdf |
| rdfs:label | "滑膜肉腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_047/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010434 |
| http://nanbyodata.jp/ontology/nanbyo#3000062 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "48" xsd:string |
| dcterms:identifier | "3000062" xsd:string |
| hasExactSynonym | "Clear cell sarcoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_048_01.pdf |
| rdfs:label | "明細胞肉腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_048/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002926 |
| http://nanbyodata.jp/ontology/nanbyo#3000063 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "49" xsd:string |
| dcterms:identifier | "3000063" xsd:string |
| hasExactSynonym | "Alveolar soft part sarcoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_049_01.pdf |
| rdfs:label | "胞巣状軟部肉腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_049/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011655 |
| http://nanbyodata.jp/ontology/nanbyo#3000064 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "50" xsd:string |
| dcterms:identifier | "3000064" xsd:string |
| hasExactSynonym | "Leiomyosarcoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_050_01.pdf |
| rdfs:label | "平滑筋肉腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_050/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005058 |
| http://nanbyodata.jp/ontology/nanbyo#3000066 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "52" xsd:string |
| dcterms:identifier | "3000066" xsd:string |
| hasExactSynonym | "Dysgerminoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_052_01.pdf |
| rdfs:label | "未分化胚細胞腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_052/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0003002 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0003481 |
| http://nanbyodata.jp/ontology/nanbyo#3000068 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "54" xsd:string |
| dcterms:identifier | "3000068" xsd:string |
| hasExactSynonym | "Polyembryoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_054_01.pdf |
| rdfs:label | "多胎芽腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_054/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0003989 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015863 |
| http://nanbyodata.jp/ontology/nanbyo#3000069 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "55" xsd:string |
| dcterms:identifier | "3000069" xsd:string |
| hasExactSynonym | "Yolk sac tumour" @en |
| hasExactSynonym | "卵黄嚢腫瘍" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_055_01.pdf |
| rdfs:label | "卵黄嚢腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_055/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000071 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "57" xsd:string |
| dcterms:identifier | "3000071" xsd:string |
| hasExactSynonym | "Mixed germ cell tumour" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_057_01.pdf |
| rdfs:label | "混合性胚細胞腫瘍" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_057/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015864 |
| http://nanbyodata.jp/ontology/nanbyo#3000072 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "58" xsd:string |
| dcterms:identifier | "3000072" xsd:string |
| hasExactSynonym | "Sox-cord stromal tumour" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_058_01.pdf |
| rdfs:label | "性索間質性腫瘍" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_058/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000073 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "59" xsd:string |
| dcterms:identifier | "3000073" xsd:string |
| hasExactSynonym | "Epipharyngeal carcinoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_059_01.pdf |
| rdfs:label | "副腎皮質癌" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_059/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000074 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "60" xsd:string |
| dcterms:identifier | "3000074" xsd:string |
| hasExactSynonym | "Thyroid cancer" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_060_01.pdf |
| rdfs:label | "甲状腺癌" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_060/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002108 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015075 |
| http://nanbyodata.jp/ontology/nanbyo#3000075 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "61" xsd:string |
| dcterms:identifier | "3000075" xsd:string |
| hasExactSynonym | "Epipharyngeal carcinoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_061_01.pdf |
| rdfs:label | "上咽頭癌" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_061/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000076 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "62" xsd:string |
| dcterms:identifier | "3000076" xsd:string |
| hasExactSynonym | "Salivery grand carcinoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_062_01.pdf |
| rdfs:label | "唾液腺癌" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_062/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000077 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "63" xsd:string |
| dcterms:identifier | "3000077" xsd:string |
| hasExactSynonym | "Malignant melanoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_063_01.pdf |
| rdfs:label | "悪性黒色腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_063/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005105 |
| http://nanbyodata.jp/ontology/nanbyo#3000078 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "64" xsd:string |
| dcterms:identifier | "3000078" xsd:string |
| hasExactSynonym | "Pheochromocytoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_064_01.pdf |
| rdfs:label | "褐色細胞腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_064/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0004974 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008233 |
| http://nanbyodata.jp/ontology/nanbyo#3000079 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "65" xsd:string |
| dcterms:identifier | "3000079" xsd:string |
| hasExactSynonym | "Malignant thymoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_065_01.pdf |
| rdfs:label | "悪性胸腺腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_065/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0006451 |
| http://nanbyodata.jp/ontology/nanbyo#3000080 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "66" xsd:string |
| dcterms:identifier | "3000080" xsd:string |
| hasExactSynonym | "Pleuropulmonaryblastoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_066_01.pdf |
| rdfs:label | "胸膜肺芽腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_066/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011014 |
| http://nanbyodata.jp/ontology/nanbyo#3000081 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "67" xsd:string |
| dcterms:identifier | "3000081" xsd:string |
| hasExactSynonym | "Bronchial tumour" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_067_01.pdf |
| rdfs:label | "気管支腫瘍" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_067/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000082 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "68" xsd:string |
| dcterms:identifier | "3000082" xsd:string |
| hasExactSynonym | "Pancreatoblastoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_068_01.pdf |
| rdfs:label | "膵芽腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_068/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019035 |
| http://nanbyodata.jp/ontology/nanbyo#3000083 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "69" xsd:string |
| dcterms:identifier | "3000083" xsd:string |
| hasExactSynonym | "Other solid tumours" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_069_01.pdf |
| rdfs:label | "27から68までに掲げるもののほか、固形腫瘍" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_069/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000084 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "70" xsd:string |
| dcterms:identifier | "3000084" xsd:string |
| hasExactSynonym | "Pilocytic astrocytoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_06_070_01.pdf |
| rdfs:label | "毛様細胞性星細胞腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_06_070/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0004000 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016691 |
| http://nanbyodata.jp/ontology/nanbyo#3000085 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "71" xsd:string |
| dcterms:identifier | "3000085" xsd:string |
| hasExactSynonym | "Diffuse astrocytoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_06_071_01.pdf |
| rdfs:label | "びまん性星細胞腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_06_071/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016686 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016688 |
| http://nanbyodata.jp/ontology/nanbyo#3000086 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "72" xsd:string |
| dcterms:identifier | "3000086" xsd:string |
| hasExactSynonym | "Anaplastic astrocytoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_06_072_01.pdf |
| rdfs:label | "退形成性星細胞腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_06_072/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016684 |
| http://nanbyodata.jp/ontology/nanbyo#3000089 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "75" xsd:string |
| dcterms:identifier | "3000089" xsd:string |
| hasExactSynonym | "Oligodendroglioma" @en |
| hasExactSynonym | "乏突起膠腫" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_06_075_01.pdf |
| rdfs:label | "乏突起神経膠腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_06_075/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002540 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002543 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016695 |
| http://nanbyodata.jp/ontology/nanbyo#3000091 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "77" xsd:string |
| dcterms:identifier | "3000091" xsd:string |
| hasExactSynonym | "Craniopharyngioma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_06_077_01.pdf |
| rdfs:label | "頭蓋咽頭腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_06_077/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018907 |
| http://nanbyodata.jp/ontology/nanbyo#3000092 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "78" xsd:string |
| dcterms:identifier | "3000092" xsd:string |
| hasExactSynonym | "Pineocytoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_06_078_01.pdf |
| rdfs:label | "松果体腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_06_078/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016723 |
| http://nanbyodata.jp/ontology/nanbyo#3000093 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "79" xsd:string |
| dcterms:identifier | "3000093" xsd:string |
| hasExactSynonym | "Choroid plexus papilloma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_06_079_01.pdf |
| rdfs:label | "脈絡叢乳頭腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_06_079/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009837 |
| http://nanbyodata.jp/ontology/nanbyo#3000095 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "81" xsd:string |
| dcterms:identifier | "3000095" xsd:string |
| hasExactSynonym | "Pituitary adenoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_06_081_01.pdf |
| rdfs:label | "下垂体腺腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_06_081/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0006373 |
| http://nanbyodata.jp/ontology/nanbyo#3000096 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "82" xsd:string |
| dcterms:identifier | "3000096" xsd:string |
| hasExactSynonym | "Ganglioglioma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_06_082_01.pdf |
| rdfs:label | "神経節膠腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_06_082/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016733 |
| http://nanbyodata.jp/ontology/nanbyo#3000097 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "83" xsd:string |
| dcterms:identifier | "3000097" xsd:string |
| hasExactSynonym | "Gangliocytoma" @en |
| hasExactSynonym | "神経節細胞腫" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_06_083_01.pdf |
| rdfs:label | "神経節腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_06_083/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016730 |
| http://nanbyodata.jp/ontology/nanbyo#3000098 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "84" xsd:string |
| dcterms:identifier | "3000098" xsd:string |
| hasExactSynonym | "Gangliocytoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_06_084_01.pdf |
| rdfs:label | "脊索腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_06_084/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016730 |
| http://nanbyodata.jp/ontology/nanbyo#3000099 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "85" xsd:string |
| dcterms:identifier | "3000099" xsd:string |
| hasExactSynonym | "primitive neuroectodermal tumour" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_041_01.pdf |
| rdfs:label | "未分化神経外胚葉性腫瘍" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_041/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000100 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "85" xsd:string |
| dcterms:identifier | "3000100" xsd:string |
| hasExactSynonym | "Primitive neuroectodermal tumour of the central nervous system" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_05_041_01.pdf |
| rdfs:label | "中枢神経系原始神経外胚葉性腫瘍" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_05_041/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000099 |
| http://nanbyodata.jp/ontology/nanbyo#3000101 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "86" xsd:string |
| dcterms:identifier | "3000101" xsd:string |
| hasExactSynonym | "AT/RT" @en |
| hasExactSynonym | "Atypical teratoid, rhabdoid tumour" @en |
| hasExactSynonym | "非定型奇形腫様ラブドイド腫瘍" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_06_086_01.pdf |
| rdfs:label | "異型奇形腫瘍／ラブドイド腫瘍" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_06_086/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012252 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020560 |
| http://nanbyodata.jp/ontology/nanbyo#3000102 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "87" xsd:string |
| dcterms:identifier | "3000102" xsd:string |
| hasExactSynonym | "Malignant neurinoma" @en |
| hasExactSynonym | "悪性末梢神経鞘腫瘍" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_06_087_01.pdf |
| rdfs:label | "悪性神経鞘腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_06_087/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000104 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "89" xsd:string |
| dcterms:identifier | "3000104" xsd:string |
| hasExactSynonym | "Teratoma of the central nervous system" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_06_089_01.pdf |
| rdfs:label | "奇形腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_06_089/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002718 |
| http://nanbyodata.jp/ontology/nanbyo#3000106 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "89" xsd:string |
| dcterms:identifier | "3000106" xsd:string |
| hasExactSynonym | "teratoma with malignant transformation" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_06_089_01.pdf |
| rdfs:label | "悪性転化を伴う奇形腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_06_089/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000104 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0006444 |
| http://nanbyodata.jp/ontology/nanbyo#3000107 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "90" xsd:string |
| dcterms:identifier | "3000107" xsd:string |
| hasExactSynonym | "Intracranial germ cell tumour" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_06_090_01.pdf |
| rdfs:label | "頭蓋内胚細胞腫瘍" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_06_090/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000108 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "91" xsd:string |
| dcterms:identifier | "3000108" xsd:string |
| hasExactSynonym | "Other tumours of the central nervous system" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_01_06_091_01.pdf |
| rdfs:label | "70から90までに掲げるもののほか、中枢神経系腫瘍" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/01_06_091/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000109 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "92" xsd:string |
| dcterms:identifier | "3000109" xsd:string |
| hasExactSynonym | "CNF" @en |
| hasExactSynonym | "Congenital nephrotic syndrome of the Finnish type" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_01_001_01.pdf |
| rdfs:label | "フィンランド型先天性ネフローゼ症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_01_001/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009732 |
| http://nanbyodata.jp/ontology/nanbyo#3000110 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "93" xsd:string |
| dcterms:identifier | "3000110" xsd:string |
| hasExactSynonym | "DMS" @en |
| hasExactSynonym | "Diffuse mesangial sclerosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_01_002_01.pdf |
| rdfs:label | "びまん性メサンギウム硬化症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_01_002/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009733 |
| http://nanbyodata.jp/ontology/nanbyo#3000111 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "94" xsd:string |
| dcterms:identifier | "3000111" xsd:string |
| hasExactSynonym | "MCNS" @en |
| hasExactSynonym | "Minimal change nephrotic syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_01_003_01.pdf |
| rdfs:label | "微小変化型ネフローゼ症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_01_003/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0006835 |
| http://nanbyodata.jp/ontology/nanbyo#3000112 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "95" xsd:string |
| dcterms:identifier | "3000112" xsd:string |
| hasExactSynonym | "FSGS" @en |
| hasExactSynonym | "Focal segmental glomerulosclerosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_01_004_01.pdf |
| rdfs:label | "巣状分節性糸球体硬化症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_01_004/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005363 |
| http://nanbyodata.jp/ontology/nanbyo#3000113 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "96" xsd:string |
| dcterms:identifier | "3000113" xsd:string |
| hasExactSynonym | "Membranous nephropathy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_01_005_01.pdf |
| rdfs:label | "膜性腎症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_01_005/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005376 |
| http://nanbyodata.jp/ontology/nanbyo#3000114 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "97" xsd:string |
| dcterms:identifier | "3000114" xsd:string |
| hasExactSynonym | "Other nephrotic syndromes" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_01_006_01.pdf |
| rdfs:label | "1から5までに掲げるもののほか、ネフローゼ症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_01_006/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000115 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "97" xsd:string |
| dcterms:identifier | "3000115" xsd:string |
| hasExactSynonym | "Denys-Drash syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_01_006_01.pdf |
| rdfs:label | "Denys-Drash症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_01_006/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000114 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008682 |
| http://nanbyodata.jp/ontology/nanbyo#3000116 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "97" xsd:string |
| dcterms:identifier | "3000116" xsd:string |
| hasExactSynonym | "Pierson syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_01_006_01.pdf |
| rdfs:label | "Pierson症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_01_006/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000114 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012184 |
| http://nanbyodata.jp/ontology/nanbyo#3000118 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "97" xsd:string |
| dcterms:identifier | "3000118" xsd:string |
| hasExactSynonym | "Junctional epidermolysis bullosa, Herlitz-type" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_01_006_01.pdf |
| rdfs:label | "Herlitz致死型表皮水疱症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_01_006/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000114 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009182 |
| http://nanbyodata.jp/ontology/nanbyo#3000119 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "97" xsd:string |
| dcterms:identifier | "3000119" xsd:string |
| hasExactSynonym | "Galloway-Mowat syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_01_006_01.pdf |
| rdfs:label | "ギャロウェイモワト症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_01_006/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000114 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009627 |
| http://nanbyodata.jp/ontology/nanbyo#3000120 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "98" xsd:string |
| dcterms:identifier | "3000120" xsd:string |
| hasExactSynonym | "IgA nephropathy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_02_007_01.pdf |
| rdfs:label | "IgA腎症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_02_007/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005342 |
| http://nanbyodata.jp/ontology/nanbyo#3000121 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "99" xsd:string |
| dcterms:identifier | "3000121" xsd:string |
| hasExactSynonym | "MesPGN" @en |
| hasExactSynonym | "Mesangial proliferative glomerulonephritis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_02_008_01.pdf |
| rdfs:label | "メサンギウム増殖性糸球体腎炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_02_008/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0003139 |
| http://nanbyodata.jp/ontology/nanbyo#3000122 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "100" xsd:string |
| dcterms:identifier | "3000122" xsd:string |
| hasExactSynonym | "MPGN" @en |
| hasExactSynonym | "Membranoproliferative glomerulonephritis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_02_009_01.pdf |
| rdfs:label | "膜性増殖性糸球体腎炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_02_009/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002461 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018904 |
| http://nanbyodata.jp/ontology/nanbyo#3000123 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "101" xsd:string |
| dcterms:identifier | "3000123" xsd:string |
| hasExactSynonym | "HSPN" @en |
| hasExactSynonym | "Henoch-Schonlein purpura nephritis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_02_010_01.pdf |
| rdfs:label | "紫斑病性腎炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_02_010/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000124 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "102" xsd:string |
| dcterms:identifier | "3000124" xsd:string |
| hasExactSynonym | "Goodpasture syndrome" @en |
| hasExactSynonym | "グッドパスチャー症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_02_011_01.pdf |
| rdfs:label | "抗糸球体基底膜腎炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_02_011/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009303 |
| http://nanbyodata.jp/ontology/nanbyo#3000125 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "103" xsd:string |
| dcterms:identifier | "3000125" xsd:string |
| hasExactSynonym | "AS" @en |
| hasExactSynonym | "chronic glomerulonephritis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_02_012_01.pdf |
| rdfs:label | "慢性糸球体腎炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_02_012/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0004978 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007113 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019344 |
| http://nanbyodata.jp/ontology/nanbyo#3000126 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "104" xsd:string |
| dcterms:identifier | "3000126" xsd:string |
| hasExactSynonym | "Epstein syndrome" @en |
| hasExactSynonym | "Epstein症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_02_013_01.pdf |
| rdfs:label | "エプスタイン症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_02_013/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007929 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015912 |
| http://nanbyodata.jp/ontology/nanbyo#3000127 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "105" xsd:string |
| dcterms:identifier | "3000127" xsd:string |
| hasExactSynonym | "LN" @en |
| hasExactSynonym | "Lupus Nephritis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_02_014_01.pdf |
| rdfs:label | "ループス腎炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_02_014/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002486 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005556 |
| http://nanbyodata.jp/ontology/nanbyo#3000128 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "106" xsd:string |
| dcterms:identifier | "3000128" xsd:string |
| hasExactSynonym | "rapidly progressive glomerulonephritis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_02_015_01.pdf |
| rdfs:label | "急速進行性糸球体腎炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_02_015/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017236 |
| http://nanbyodata.jp/ontology/nanbyo#3000130 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "107" xsd:string |
| dcterms:identifier | "3000130" xsd:string |
| hasExactSynonym | "rapidly progressive glomerulonephritis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_02_015_01.pdf |
| rdfs:label | "急速進行性糸球体腎炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_02_015/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017236 |
| http://nanbyodata.jp/ontology/nanbyo#3000131 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "107" xsd:string |
| dcterms:identifier | "3000131" xsd:string |
| hasExactSynonym | "Granulomatosis with polyangiitis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_02_015_01.pdf |
| rdfs:label | "多発血管炎性肉芽腫症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_02_015/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000130 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012105 |
| http://nanbyodata.jp/ontology/nanbyo#3000132 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "108" xsd:string |
| dcterms:identifier | "3000132" xsd:string |
| hasExactSynonym | "Atypical haemolytic uraemic syndrome" @en |
| hasExactSynonym | "aHUS" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_02_017_01.pdf |
| rdfs:label | "非典型溶血性尿毒症症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_02_017/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016244 |
| http://nanbyodata.jp/ontology/nanbyo#3000133 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "109" xsd:string |
| dcterms:identifier | "3000133" xsd:string |
| hasExactSynonym | "Nail-patella syndrome" @en |
| hasExactSynonym | "aHUS" @en |
| hasExactSynonym | "爪膝蓋症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_02_018_01.pdf |
| rdfs:label | "ネイル・パテラ症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_02_018/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008061 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016244 |
| http://nanbyodata.jp/ontology/nanbyo#3000134 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "110" xsd:string |
| dcterms:identifier | "3000134" xsd:string |
| hasExactSynonym | "Glomerulopathy with fibronectin deposits, fibronectin nephropathy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_02_019_01.pdf |
| rdfs:label | "フィブロネクチン腎症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_02_019/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000135 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "111" xsd:string |
| dcterms:identifier | "3000135" xsd:string |
| hasExactSynonym | "Lipoprotein glomerulopathy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_02_020_01.pdf |
| rdfs:label | "リポタンパク糸球体症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_02_020/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012725 |
| http://nanbyodata.jp/ontology/nanbyo#3000136 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "112" xsd:string |
| dcterms:identifier | "3000136" xsd:string |
| hasExactSynonym | "Others chronic glomerulonephritis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_02_021_01.pdf |
| rdfs:label | "7から20までに掲げるもののほか、慢性糸球体腎炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_02_021/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000137 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "113" xsd:string |
| dcterms:identifier | "3000137" xsd:string |
| hasExactSynonym | "TIN" @en |
| hasExactSynonym | "Tubulointerstitial nephritis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_03_022_01.pdf |
| rdfs:label | "慢性尿細管間質性腎炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_03_022/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001085 |
| http://nanbyodata.jp/ontology/nanbyo#3000138 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "114" xsd:string |
| dcterms:identifier | "3000138" xsd:string |
| hasExactSynonym | "Chronic pyelonephritis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_04_023_01.pdf |
| rdfs:label | "慢性腎盂腎炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_04_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001110 |
| http://nanbyodata.jp/ontology/nanbyo#3000139 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "115" xsd:string |
| dcterms:identifier | "3000139" xsd:string |
| hasExactSynonym | "Amyloid nephropathy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_05_024_01.pdf |
| rdfs:label | "アミロイド腎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_05_024/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000140 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "116" xsd:string |
| dcterms:identifier | "3000140" xsd:string |
| hasExactSynonym | "FJHN" @en |
| hasExactSynonym | "Familial juvenile hyperuricaemic nephropathy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_06_025_01.pdf |
| rdfs:label | "家族性若年性高尿酸血症性腎症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_06_025/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000608 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008073 |
| http://nanbyodata.jp/ontology/nanbyo#3000141 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "117" xsd:string |
| dcterms:identifier | "3000141" xsd:string |
| hasExactSynonym | "NPH" @en |
| hasExactSynonym | "Nephronophthisis" @en |
| hasExactSynonym | "juvenile nephronophthisis " @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_07_026_01.pdf |
| rdfs:label | "ネフロン癆" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_07_026/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009366 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009728 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019005 |
| http://nanbyodata.jp/ontology/nanbyo#3000142 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "118" xsd:string |
| dcterms:identifier | "3000142" xsd:string |
| hasExactSynonym | "Renovascular hypertension" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_08_027_01.pdf |
| rdfs:label | "腎血管性高血圧" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_08_027/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001105 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0006947 |
| http://nanbyodata.jp/ontology/nanbyo#3000143 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "119" xsd:string |
| dcterms:identifier | "3000143" xsd:string |
| hasExactSynonym | "RVT" @en |
| hasExactSynonym | "Renal vein thrombosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_09_028_01.pdf |
| rdfs:label | "腎静脈血栓症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_09_028/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000144 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "120" xsd:string |
| dcterms:identifier | "3000144" xsd:string |
| hasExactSynonym | "Renal arteriovenous fistula" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_10_029_01.pdf |
| rdfs:label | "腎動静脈瘻" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_10_029/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000145 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "121" xsd:string |
| dcterms:identifier | "3000145" xsd:string |
| hasExactSynonym | "RTA" @en |
| hasExactSynonym | "Renal tubular acidosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_11_030_01.pdf |
| rdfs:label | "尿細管性アシドーシス" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_11_030/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001909 |
| http://nanbyodata.jp/ontology/nanbyo#3000146 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "122" xsd:string |
| dcterms:identifier | "3000146" xsd:string |
| hasExactSynonym | "Gitelman Bartter syndrome" @en |
| hasExactSynonym | "Gitelman症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_12_031_01.pdf |
| rdfs:label | "ギッテルマン症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_12_031/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000147 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "123" xsd:string |
| dcterms:identifier | "3000147" xsd:string |
| hasExactSynonym | "Bartter Gitelman syndrome" @en |
| hasExactSynonym | "Bartter症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_13_032_01.pdf |
| rdfs:label | "バーター症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_13_032/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000148 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "124" xsd:string |
| dcterms:identifier | "3000148" xsd:string |
| hasExactSynonym | "Nephro- and urolithiasis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_14_033_01.pdf |
| rdfs:label | "腎尿管結石" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_14_033/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000149 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "125" xsd:string |
| dcterms:identifier | "3000149" xsd:string |
| hasExactSynonym | "Chronic renal failure" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_15_034_01.pdf |
| rdfs:label | "慢性腎不全" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_15_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005300 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0024327 |
| http://nanbyodata.jp/ontology/nanbyo#3000151 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "126" xsd:string |
| dcterms:identifier | "3000151" xsd:string |
| hasExactSynonym | "Chronic renal failure" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_15_034_01.pdf |
| rdfs:label | "慢性腎不全" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_15_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005300 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0024327 |
| http://nanbyodata.jp/ontology/nanbyo#3000152 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "126" xsd:string |
| dcterms:identifier | "3000152" xsd:string |
| hasExactSynonym | "Chronic renal failure due to acute tubular necrosis" @en |
| hasExactSynonym | "acute tubular necrosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_15_034_01.pdf |
| rdfs:label | "急性尿細管壊死" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_15_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000151 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0006637 |
| http://nanbyodata.jp/ontology/nanbyo#3000153 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "126" xsd:string |
| dcterms:identifier | "3000153" xsd:string |
| hasExactSynonym | "Chronic renal failure due to renal ischemias" @en |
| hasExactSynonym | "renal ischemias" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_15_034_01.pdf |
| rdfs:label | "腎虚血" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_15_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000151 |
| http://nanbyodata.jp/ontology/nanbyo#3000154 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "127" xsd:string |
| dcterms:identifier | "3000154" xsd:string |
| hasExactSynonym | "PKD" @en |
| hasExactSynonym | "Polycystic kidney disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_15_035_01.pdf |
| rdfs:label | "多発性嚢胞腎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_15_035/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020642 |
| http://nanbyodata.jp/ontology/nanbyo#3000155 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "127" xsd:string |
| dcterms:identifier | "3000155" xsd:string |
| hasExactSynonym | "ADPKD" @en |
| hasExactSynonym | "Autosomal dominant PKD" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_15_035_01.pdf |
| rdfs:label | "常染色体優性多嚢胞腎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_15_035/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000154 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0004691 |
| http://nanbyodata.jp/ontology/nanbyo#3000156 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "127" xsd:string |
| dcterms:identifier | "3000156" xsd:string |
| hasExactSynonym | "ARPKD" @en |
| hasExactSynonym | "Autosomal recessive PKD" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_15_035_01.pdf |
| rdfs:label | "常染色体劣性多嚢胞腎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_15_035/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000154 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009889 |
| http://nanbyodata.jp/ontology/nanbyo#3000157 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "128" xsd:string |
| dcterms:identifier | "3000157" xsd:string |
| hasExactSynonym | "Hypoplastic kidney" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_16_036_01.pdf |
| rdfs:label | "低形成腎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_16_036/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000158 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "129" xsd:string |
| dcterms:identifier | "3000158" xsd:string |
| hasExactSynonym | "Renal aplasia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_16_037_01.pdf |
| rdfs:label | "腎無形成" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_16_037/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018470 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0024519 |
| http://nanbyodata.jp/ontology/nanbyo#3000159 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "130" xsd:string |
| dcterms:identifier | "3000159" xsd:string |
| hasExactSynonym | "Potter sequence" @en |
| hasExactSynonym | "Potter syndrome" @en |
| hasExactSynonym | "Potter症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_16_038_01.pdf |
| rdfs:label | "ポッター症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_16_038/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001558 |
| http://nanbyodata.jp/ontology/nanbyo#3000160 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "131" xsd:string |
| dcterms:identifier | "3000160" xsd:string |
| hasExactSynonym | "MCDK" @en |
| hasExactSynonym | "Multicystic dysplastic kidney" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_16_039_01.pdf |
| rdfs:label | "多嚢胞性異形成腎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_16_039/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015988 |
| http://nanbyodata.jp/ontology/nanbyo#3000161 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "132" xsd:string |
| dcterms:identifier | "3000161" xsd:string |
| hasExactSynonym | "Oligomeganephronia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_16_040_01.pdf |
| rdfs:label | "寡巨大糸球体症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_16_040/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016407 |
| http://nanbyodata.jp/ontology/nanbyo#3000162 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "133" xsd:string |
| dcterms:identifier | "3000162" xsd:string |
| hasExactSynonym | "Other renal malformations" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf |
| rdfs:label | "36から41までに掲げるもののほか、腎奇形" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_16_041/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000163 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "133" xsd:string |
| dcterms:identifier | "3000163" xsd:string |
| hasExactSynonym | "renal dysplasia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf |
| rdfs:label | "腎異形成" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_16_041/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000162 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019638 |
| http://nanbyodata.jp/ontology/nanbyo#3000164 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "133" xsd:string |
| dcterms:identifier | "3000164" xsd:string |
| hasExactSynonym | "Supernumerary kidney" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf |
| rdfs:label | "過剰腎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_16_041/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000162 |
| http://nanbyodata.jp/ontology/nanbyo#3000165 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "133" xsd:string |
| dcterms:identifier | "3000165" xsd:string |
| hasExactSynonym | "Ectopic pelvic kidney" @en |
| hasExactSynonym | "Pelvic kidney" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf |
| rdfs:label | "骨盤腎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_16_041/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000162 |
| http://nanbyodata.jp/ontology/nanbyo#3000166 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "133" xsd:string |
| dcterms:identifier | "3000166" xsd:string |
| hasExactSynonym | "crossed renal ectopia without fusion" @en |
| hasExactSynonym | "非融合性交叉性腎変位" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf |
| rdfs:label | "交差性変位腎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_16_041/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000162 |
| http://nanbyodata.jp/ontology/nanbyo#3000167 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "133" xsd:string |
| dcterms:identifier | "3000167" xsd:string |
| hasExactSynonym | "lumber ectopic kidney" @en |
| hasExactSynonym | "lumber kidney " @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf |
| rdfs:label | "腰部変位腎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_16_041/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000162 |
| http://nanbyodata.jp/ontology/nanbyo#3000168 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "133" xsd:string |
| dcterms:identifier | "3000168" xsd:string |
| hasExactSynonym | "throacic kidney" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf |
| rdfs:label | "胸部腎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_16_041/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000162 |
| http://nanbyodata.jp/ontology/nanbyo#3000169 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "133" xsd:string |
| dcterms:identifier | "3000169" xsd:string |
| hasExactSynonym | "crossed fused kidney" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf |
| rdfs:label | "交差性融合腎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_16_041/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000162 |
| http://nanbyodata.jp/ontology/nanbyo#3000170 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "133" xsd:string |
| dcterms:identifier | "3000170" xsd:string |
| hasExactSynonym | "fused pelvic kidney" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf |
| rdfs:label | "骨盤部融合腎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_16_041/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000162 |
| http://nanbyodata.jp/ontology/nanbyo#3000171 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "133" xsd:string |
| dcterms:identifier | "3000171" xsd:string |
| hasExactSynonym | "horseshoe kidney" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf |
| rdfs:label | "馬蹄腎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_16_041/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000162 |
| http://nanbyodata.jp/ontology/nanbyo#3000172 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "133" xsd:string |
| dcterms:identifier | "3000172" xsd:string |
| hasExactSynonym | "medullary cystic kidney disease" @en |
| hasExactSynonym | "髄質性嚢胞腎" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf |
| rdfs:label | "髄質嚢胞腎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_16_041/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000162 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008264 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019005 |
| http://nanbyodata.jp/ontology/nanbyo#3000173 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "133" xsd:string |
| dcterms:identifier | "3000173" xsd:string |
| hasExactSynonym | "multilocular cysts of the kidney" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf |
| rdfs:label | "多房性腎嚢胞" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_16_041/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000162 |
| http://nanbyodata.jp/ontology/nanbyo#3000174 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "133" xsd:string |
| dcterms:identifier | "3000174" xsd:string |
| hasExactSynonym | "simple renal cyst" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf |
| rdfs:label | "単純性腎嚢胞" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_16_041/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000162 |
| http://nanbyodata.jp/ontology/nanbyo#3000175 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "133" xsd:string |
| dcterms:identifier | "3000175" xsd:string |
| hasExactSynonym | "Medullary Sponge Kidney" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf |
| rdfs:label | "髄質海綿腎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_16_041/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000162 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015268 |
| http://nanbyodata.jp/ontology/nanbyo#3000176 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "133" xsd:string |
| dcterms:identifier | "3000176" xsd:string |
| hasExactSynonym | "acquired cystic disease of the kidney" @en |
| hasExactSynonym | "多嚢胞化萎縮腎 " @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf |
| rdfs:label | "後天性嚢胞性腎疾患" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_16_041/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000162 |
| http://nanbyodata.jp/ontology/nanbyo#3000177 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "133" xsd:string |
| dcterms:identifier | "3000177" xsd:string |
| hasExactSynonym | "calyceal diverticulum" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf |
| rdfs:label | "腎杯憩室" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_16_041/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000162 |
| http://nanbyodata.jp/ontology/nanbyo#3000178 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "133" xsd:string |
| dcterms:identifier | "3000178" xsd:string |
| hasExactSynonym | "ureteropelvic junction obstruction" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf |
| rdfs:label | "先天性水腎症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_16_041/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000162 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0027676 |
| http://nanbyodata.jp/ontology/nanbyo#3000179 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "133" xsd:string |
| dcterms:identifier | "3000179" xsd:string |
| hasExactSynonym | "megacalycosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf |
| rdfs:label | "巨大腎杯症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_16_041/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000162 |
| http://nanbyodata.jp/ontology/nanbyo#3000180 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "134" xsd:string |
| dcterms:identifier | "3000180" xsd:string |
| hasExactSynonym | "Obstructive uropathy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_16_042_01.pdf |
| rdfs:label | "閉塞性尿路疾患" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_16_042/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0003330 |
| http://nanbyodata.jp/ontology/nanbyo#3000181 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "135" xsd:string |
| dcterms:identifier | "3000181" xsd:string |
| hasExactSynonym | "VUR" @en |
| hasExactSynonym | "Vesicoureteral reflux" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_17_043_01.pdf |
| rdfs:label | "膀胱尿管逆流" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_17_043/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008653 |
| http://nanbyodata.jp/ontology/nanbyo#3000182 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "136" xsd:string |
| dcterms:identifier | "3000182" xsd:string |
| hasExactSynonym | "Duplex Collecting System" @en |
| hasExactSynonym | "Other urinary tract malformations" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_17_044_01.pdf |
| rdfs:label | "43及び44に掲げるもののほか、尿路奇形" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_17_044/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000183 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "136" xsd:string |
| dcterms:identifier | "3000183" xsd:string |
| hasExactSynonym | "ectopic ureteral orifice" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_17_044_01.pdf |
| rdfs:label | "異所開口尿管" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_17_044/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000182 |
| http://nanbyodata.jp/ontology/nanbyo#3000184 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "136" xsd:string |
| dcterms:identifier | "3000184" xsd:string |
| hasExactSynonym | "ureteroceles" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_17_044_01.pdf |
| rdfs:label | "尿管瘤" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_17_044/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000182 |
| http://nanbyodata.jp/ontology/nanbyo#3000185 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "136" xsd:string |
| dcterms:identifier | "3000185" xsd:string |
| hasExactSynonym | "Megaureter" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_17_044_01.pdf |
| rdfs:label | "巨大尿管症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_17_044/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000182 |
| http://nanbyodata.jp/ontology/nanbyo#3000186 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "136" xsd:string |
| dcterms:identifier | "3000186" xsd:string |
| hasExactSynonym | "Prune belly syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_17_044_01.pdf |
| rdfs:label | "Prune belly症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_17_044/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000182 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007032 |
| http://nanbyodata.jp/ontology/nanbyo#3000187 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "137" xsd:string |
| dcterms:identifier | "3000187" xsd:string |
| hasExactSynonym | "Atrophic kidney" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_17_045_01.pdf |
| rdfs:label | "萎縮腎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_17_045/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000188 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "138" xsd:string |
| dcterms:identifier | "3000188" xsd:string |
| hasExactSynonym | "Fanconi syndrome" @en |
| hasExactSynonym | "Fanconi症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_18_046_01.pdf |
| rdfs:label | "ファンコーニ症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_18_046/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001083 |
| http://nanbyodata.jp/ontology/nanbyo#3000189 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "139" xsd:string |
| dcterms:identifier | "3000189" xsd:string |
| hasExactSynonym | "Lowe syndrome" @en |
| hasExactSynonym | "Lowe症候群" @ja |
| hasExactSynonym | "oculocerebrorenal syndrome of Lowe" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_19_047_01.pdf |
| rdfs:label | "ロウ症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_19_047/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010645 |
| http://nanbyodata.jp/ontology/nanbyo#3000190 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "140" xsd:string |
| dcterms:identifier | "3000190" xsd:string |
| hasExactSynonym | "airway obstruction and stenosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_20_048_01.pdf |
| rdfs:label | "気道狭窄" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_20_048/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000191 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "140" xsd:string |
| dcterms:identifier | "3000191" xsd:string |
| hasExactSynonym | "laryngeal stenosis and supraglottic/glottic/subglottic stenosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_20_048_01.pdf |
| rdfs:label | "喉頭狭窄" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_20_048/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000190 |
| http://nanbyodata.jp/ontology/nanbyo#3000192 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "140" xsd:string |
| dcterms:identifier | "3000192" xsd:string |
| hasExactSynonym | "tracheal stenosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_20_048_01.pdf |
| rdfs:label | "気管狭窄" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_20_048/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000190 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002568 |
| http://nanbyodata.jp/ontology/nanbyo#3000193 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "140" xsd:string |
| dcterms:identifier | "3000193" xsd:string |
| hasExactSynonym | "pharyngeal stenosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_20_048_01.pdf |
| rdfs:label | "咽頭狭窄" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_20_048/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000190 |
| http://nanbyodata.jp/ontology/nanbyo#3000194 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "140" xsd:string |
| dcterms:identifier | "3000194" xsd:string |
| hasExactSynonym | "tracheomalacia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_20_048_01.pdf |
| rdfs:label | "気管軟化症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_20_048/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000190 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019804 |
| http://nanbyodata.jp/ontology/nanbyo#3000195 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "140" xsd:string |
| dcterms:identifier | "3000195" xsd:string |
| hasExactSynonym | "bronchial stenosis and bronchomalacia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_02_20_048_01.pdf |
| rdfs:label | "気管支狭窄症・軟化症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/02_20_048/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000190 |
| http://nanbyodata.jp/ontology/nanbyo#3000196 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "141" xsd:string |
| dcterms:identifier | "3000196" xsd:string |
| hasExactSynonym | "airway obstruction and stenosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_03_01_001_01.pdf |
| rdfs:label | "気管支喘息" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/03_01_001/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000197 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "142" xsd:string |
| dcterms:identifier | "3000197" xsd:string |
| hasExactSynonym | "CCHS" @en |
| hasExactSynonym | "congenital central hypoventilation syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_03_02_002_01.pdf |
| rdfs:label | "先天性中枢性低換気症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/03_02_002/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008852 |
| http://nanbyodata.jp/ontology/nanbyo#3000198 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "143" xsd:string |
| dcterms:identifier | "3000198" xsd:string |
| hasExactSynonym | "idiopathic interstitial pneumonia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_03_03_003_01.pdf |
| rdfs:label | "特発性間質性肺炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/03_03_003/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002429 |
| http://nanbyodata.jp/ontology/nanbyo#3000199 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "144" xsd:string |
| dcterms:identifier | "3000199" xsd:string |
| hasExactSynonym | "Congenital alveolar proteinosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_03_04_004_01.pdf |
| rdfs:label | "先天性肺胞蛋白症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/03_04_004/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000200 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "144" xsd:string |
| dcterms:identifier | "3000200" xsd:string |
| hasExactSynonym | "HILD" @en |
| hasExactSynonym | "Hereditary interstitial lung disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_03_04_004_01.pdf |
| rdfs:label | "遺伝性間質性肺疾患" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/03_04_004/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000199 |
| http://nanbyodata.jp/ontology/nanbyo#3000201 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "145" xsd:string |
| dcterms:identifier | "3000201" xsd:string |
| hasExactSynonym | "PAM" @en |
| hasExactSynonym | "pulmonary alveolar microlithiasis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_03_04_005_01.pdf |
| rdfs:label | "肺胞微石症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/03_04_005/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009928 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018959 |
| http://nanbyodata.jp/ontology/nanbyo#3000202 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "146" xsd:string |
| dcterms:identifier | "3000202" xsd:string |
| hasExactSynonym | "primary ciliary dyskinesia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_03_04_006_01.pdf |
| rdfs:label | "線毛機能不全症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/03_04_006/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016575 |
| http://nanbyodata.jp/ontology/nanbyo#3000203 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "146" xsd:string |
| dcterms:identifier | "3000203" xsd:string |
| hasExactSynonym | "Kartagener syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_03_04_006_01.pdf |
| rdfs:label | "カルタゲナー症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/03_04_006/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000202 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009484 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016575 |
| http://nanbyodata.jp/ontology/nanbyo#3000204 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "147" xsd:string |
| dcterms:identifier | "3000204" xsd:string |
| hasExactSynonym | "CF" @en |
| hasExactSynonym | "cystic fibrosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_03_05_007_01.pdf |
| rdfs:label | "嚢胞性線維症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/03_05_007/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009061 |
| http://nanbyodata.jp/ontology/nanbyo#3000205 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "148" xsd:string |
| dcterms:identifier | "3000205" xsd:string |
| hasExactSynonym | "bronchiectasis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_03_06_008_01.pdf |
| rdfs:label | "気管支拡張症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/03_06_008/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0004822 |
| http://nanbyodata.jp/ontology/nanbyo#3000206 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "149" xsd:string |
| dcterms:identifier | "3000206" xsd:string |
| hasExactSynonym | "idiopathic pulmonary hemosiderosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_03_07_009_01.pdf |
| rdfs:label | "特発性肺ヘモジデローシス" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/03_07_009/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008346 |
| http://nanbyodata.jp/ontology/nanbyo#3000207 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "150" xsd:string |
| dcterms:identifier | "3000207" xsd:string |
| hasExactSynonym | "CLD" @en |
| hasExactSynonym | "chronic lung disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_03_08_010_01.pdf |
| rdfs:label | "慢性肺疾患" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/03_08_010/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008964 |
| http://nanbyodata.jp/ontology/nanbyo#3000208 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "151" xsd:string |
| dcterms:identifier | "3000208" xsd:string |
| hasExactSynonym | "bronchiolitis obliterans" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_03_09_011_01.pdf |
| rdfs:label | "閉塞性細気管支炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/03_09_011/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015265 |
| http://nanbyodata.jp/ontology/nanbyo#3000209 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "152" xsd:string |
| dcterms:identifier | "3000209" xsd:string |
| hasExactSynonym | "congenital diaphragmatic hernia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_03_10_012_01.pdf |
| rdfs:label | "先天性横隔膜ヘルニア" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/03_10_012/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005711 |
| http://nanbyodata.jp/ontology/nanbyo#3000210 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "153" xsd:string |
| dcterms:identifier | "3000210" xsd:string |
| hasExactSynonym | "Congenital cystic lung disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_03_11_013_01.pdf |
| rdfs:label | "先天性嚢胞性肺疾患" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/03_11_013/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000211 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "154" xsd:string |
| dcterms:identifier | "3000211" xsd:string |
| hasExactSynonym | "Sick sinus syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_03_12_014_01.pdf |
| rdfs:label | "洞不全症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/03_12_014/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001823 |
| http://nanbyodata.jp/ontology/nanbyo#3000212 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "155" xsd:string |
| dcterms:identifier | "3000212" xsd:string |
| hasExactSynonym | "Mobitz type II second degree atrioventricular block" @en |
| hasExactSynonym | "Mobitz2型ブロック " @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_01_001_01.pdf |
| rdfs:label | "モビッツ2型ブロック" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_01_001/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000213 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "156" xsd:string |
| dcterms:identifier | "3000213" xsd:string |
| hasExactSynonym | "Complete atrio-ventricular block" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_02_002_01.pdf |
| rdfs:label | "完全房室ブロック" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_02_002/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000468 |
| http://nanbyodata.jp/ontology/nanbyo#3000214 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "157" xsd:string |
| dcterms:identifier | "3000214" xsd:string |
| hasExactSynonym | "Bundle branch block" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_03_003_01.pdf |
| rdfs:label | "脚ブロック" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_03_003/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007240 |
| http://nanbyodata.jp/ontology/nanbyo#3000215 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "158" xsd:string |
| dcterms:identifier | "3000215" xsd:string |
| hasExactSynonym | "Polymorphic ventricular premature beat" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_04_004_01.pdf |
| rdfs:label | "多源性心室期外収縮" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_04_004/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000216 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "159" xsd:string |
| dcterms:identifier | "3000216" xsd:string |
| hasExactSynonym | "Supraventricular tachycardia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_05_005_01.pdf |
| rdfs:label | "上室頻拍" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_05_005/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000217 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "159" xsd:string |
| dcterms:identifier | "3000217" xsd:string |
| hasExactSynonym | "WPW syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_05_005_01.pdf |
| rdfs:label | "WPW症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_05_005/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000216 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008685 |
| http://nanbyodata.jp/ontology/nanbyo#3000218 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "160" xsd:string |
| dcterms:identifier | "3000218" xsd:string |
| hasExactSynonym | "Multiple atrial tachycardia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_06_006_01.pdf |
| rdfs:label | "多源性心房頻拍" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_06_006/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000219 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "161" xsd:string |
| dcterms:identifier | "3000219" xsd:string |
| hasExactSynonym | "Supraventricular tachycardia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_06_007_01.pdf |
| rdfs:label | "6及び7に掲げるもののほか、上室頻拍" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_06_007/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000220 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "162" xsd:string |
| dcterms:identifier | "3000220" xsd:string |
| hasExactSynonym | "Verapamil sensitive ventricular tachycardia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_06_008_01.pdf |
| rdfs:label | "ベラパミル感受性心室頻拍" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_06_008/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000221 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "163" xsd:string |
| dcterms:identifier | "3000221" xsd:string |
| hasExactSynonym | "CPVT" @en |
| hasExactSynonym | "Catecholaminergic polymorphic ventricular tachycardia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_07_009_01.pdf |
| rdfs:label | "カテコラミン誘発多形性心室頻拍" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_07_009/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017990 |
| http://nanbyodata.jp/ontology/nanbyo#3000222 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "164" xsd:string |
| dcterms:identifier | "3000222" xsd:string |
| hasExactSynonym | "Ventricular tachycardia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_07_010_01.pdf |
| rdfs:label | "9及び10に掲げるもののほか、心室頻拍" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_07_010/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000223 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "164" xsd:string |
| dcterms:identifier | "3000223" xsd:string |
| hasExactSynonym | "adenosine sensitive VT" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_07_010_01.pdf |
| rdfs:label | "アデノシン感受性心室頻拍" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_07_010/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000222 |
| http://nanbyodata.jp/ontology/nanbyo#3000224 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "164" xsd:string |
| dcterms:identifier | "3000224" xsd:string |
| hasExactSynonym | "propranolol sensitive VT" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_07_010_01.pdf |
| rdfs:label | "プロプラノロール感受性心室頻拍" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_07_010/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000222 |
| http://nanbyodata.jp/ontology/nanbyo#3000225 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "166" xsd:string |
| dcterms:identifier | "3000225" xsd:string |
| hasExactSynonym | "Atrial flutter" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_07_011_01.pdf |
| rdfs:label | "心房粗動" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_07_011/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005310 |
| http://nanbyodata.jp/ontology/nanbyo#3000226 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "167" xsd:string |
| dcterms:identifier | "3000226" xsd:string |
| hasExactSynonym | "Atrial fibrillation" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_08_012_01.pdf |
| rdfs:label | "心房細動" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_08_012/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0004981 |
| http://nanbyodata.jp/ontology/nanbyo#3000227 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "168" xsd:string |
| dcterms:identifier | "3000227" xsd:string |
| hasExactSynonym | "Ventricular fibrillation" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_09_013_01.pdf |
| rdfs:label | "心室細動" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_09_013/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000228 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "169" xsd:string |
| dcterms:identifier | "3000228" xsd:string |
| hasExactSynonym | "LQTS" @en |
| hasExactSynonym | "Long qt syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_10_014_01.pdf |
| rdfs:label | "QT延長症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_10_014/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002442 |
| http://nanbyodata.jp/ontology/nanbyo#3000229 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "170" xsd:string |
| dcterms:identifier | "3000229" xsd:string |
| hasExactSynonym | "Hypertrophic cardiomyopathy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_11_015_01.pdf |
| rdfs:label | "肥大型心筋症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_11_015/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005045 |
| http://nanbyodata.jp/ontology/nanbyo#3000230 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "171" xsd:string |
| dcterms:identifier | "3000230" xsd:string |
| hasExactSynonym | "Arrhythmogenic right ventricular cardiomyopathy or dysplasia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_12_016_01.pdf |
| rdfs:label | "不整脈源性右室心筋症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_12_016/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000231 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "172" xsd:string |
| dcterms:identifier | "3000231" xsd:string |
| hasExactSynonym | "Non-compaction of the ventricle" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_13_017_01.pdf |
| rdfs:label | "心筋緻密化障害" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_13_017/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000232 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "173" xsd:string |
| dcterms:identifier | "3000232" xsd:string |
| hasExactSynonym | "Dilated cardiomyopathy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_14_018_01.pdf |
| rdfs:label | "拡張型心筋症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_14_018/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005021 |
| http://nanbyodata.jp/ontology/nanbyo#3000233 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "174" xsd:string |
| dcterms:identifier | "3000233" xsd:string |
| hasExactSynonym | "Restricted cardiomyopathy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_15_019_01.pdf |
| rdfs:label | "拘束型心筋症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_15_019/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000234 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "175" xsd:string |
| dcterms:identifier | "3000234" xsd:string |
| hasExactSynonym | "Aneurysm of ventricle" @en |
| hasExactSynonym | "diverticulum of ventricle" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_16_020_01.pdf |
| rdfs:label | "心室瘤" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_16_020/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000235 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "176" xsd:string |
| dcterms:identifier | "3000235" xsd:string |
| hasExactSynonym | "Endocardial fibroelastosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_17_021_01.pdf |
| rdfs:label | "心内膜線維弾性症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_17_021/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009169 |
| http://nanbyodata.jp/ontology/nanbyo#3000236 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "177" xsd:string |
| dcterms:identifier | "3000236" xsd:string |
| hasExactSynonym | "Cardiac tumor" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_18_022_01.pdf |
| rdfs:label | "心臓腫瘍" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_18_022/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001340 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0021209 |
| http://nanbyodata.jp/ontology/nanbyo#3000237 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "178" xsd:string |
| dcterms:identifier | "3000237" xsd:string |
| hasExactSynonym | "Chronic myocarditis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_19_023_01.pdf |
| rdfs:label | "慢性心筋炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_19_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000238 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "179" xsd:string |
| dcterms:identifier | "3000238" xsd:string |
| hasExactSynonym | "Chronic pericarditis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_20_024_01.pdf |
| rdfs:label | "慢性心膜炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_20_024/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000239 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "180" xsd:string |
| dcterms:identifier | "3000239" xsd:string |
| hasExactSynonym | "Constrictive pericarditis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_21_025_01.pdf |
| rdfs:label | "収縮性心膜炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_21_025/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0006711 |
| http://nanbyodata.jp/ontology/nanbyo#3000240 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "181" xsd:string |
| dcterms:identifier | "3000240" xsd:string |
| hasExactSynonym | "Congenital defect of the pericardium" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_22_026_01.pdf |
| rdfs:label | "先天性心膜欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_22_026/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000241 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "182" xsd:string |
| dcterms:identifier | "3000241" xsd:string |
| hasExactSynonym | "Idiopathic Rupture of Chordae Tendineae of the Mitral Valve in Infants" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_23_027_01.pdf |
| rdfs:label | "乳児特発性僧帽弁腱索断裂" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_23_027/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000242 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "183" xsd:string |
| dcterms:identifier | "3000242" xsd:string |
| hasExactSynonym | "Abnormal origin of left coronary artery from pulmonary artery" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_24_028_01.pdf |
| rdfs:label | "左冠動脈肺動脈起始症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_24_028/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000243 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "184" xsd:string |
| dcterms:identifier | "3000243" xsd:string |
| hasExactSynonym | "Abnormal origin of right coronary artery from pulmonary artery" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_25_029_01.pdf |
| rdfs:label | "右冠動脈肺動脈起始症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_25_029/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000244 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "185" xsd:string |
| dcterms:identifier | "3000244" xsd:string |
| hasExactSynonym | "Other anomalous origin of coronary artery" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_25_030_01.pdf |
| rdfs:label | "29及び30に掲げるもののほか、冠動脈起始異常" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_25_030/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000245 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "186" xsd:string |
| dcterms:identifier | "3000245" xsd:string |
| hasExactSynonym | "Coronary aneurysms complicated with kawasaki disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_25_031_01.pdf |
| rdfs:label | "川崎病性冠動脈瘤" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_25_031/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000246 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "187" xsd:string |
| dcterms:identifier | "3000246" xsd:string |
| hasExactSynonym | "Stenosis or atresia of coronary artery" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_26_032_01.pdf |
| rdfs:label | "冠動脈狭窄症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_26_032/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000247 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "188" xsd:string |
| dcterms:identifier | "3000247" xsd:string |
| hasExactSynonym | "Angina pectoris" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_27_033_01.pdf |
| rdfs:label | "狭心症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_27_033/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000248 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "189" xsd:string |
| dcterms:identifier | "3000248" xsd:string |
| hasExactSynonym | "Myocardial infarction" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_28_034_01.pdf |
| rdfs:label | "心筋梗塞" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_28_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005068 |
| http://nanbyodata.jp/ontology/nanbyo#3000249 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "190" xsd:string |
| dcterms:identifier | "3000249" xsd:string |
| hasExactSynonym | "Hypoplastic left heart syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_28_035_01.pdf |
| rdfs:label | "左心低形成症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_28_035/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0004933 |
| http://nanbyodata.jp/ontology/nanbyo#3000250 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "191" xsd:string |
| dcterms:identifier | "3000250" xsd:string |
| hasExactSynonym | "Single ventricle" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_29_036_01.pdf |
| rdfs:label | "単心室症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_29_036/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000251 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "192" xsd:string |
| dcterms:identifier | "3000251" xsd:string |
| hasExactSynonym | "Tricuspid atresia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_30_037_01.pdf |
| rdfs:label | "三尖弁閉鎖症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_30_037/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011514 |
| http://nanbyodata.jp/ontology/nanbyo#3000252 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "193" xsd:string |
| dcterms:identifier | "3000252" xsd:string |
| hasExactSynonym | "Pulmonary atresia with ventricular septal defect" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_31_038_01.pdf |
| rdfs:label | "心室中隔欠損を伴う肺動脈閉鎖症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_31_038/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008343 |
| http://nanbyodata.jp/ontology/nanbyo#3000253 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "194" xsd:string |
| dcterms:identifier | "3000253" xsd:string |
| hasExactSynonym | "Pulmonary atresia with intact ventricular septum" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_32_039_01.pdf |
| rdfs:label | "心室中隔欠損を伴わない肺動脈閉鎖症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_32_039/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009931 |
| http://nanbyodata.jp/ontology/nanbyo#3000254 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "195" xsd:string |
| dcterms:identifier | "3000254" xsd:string |
| hasExactSynonym | "Fallot四徴症" @ja |
| hasExactSynonym | "Tetralogy of Fallot" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_32_040_01.pdf |
| rdfs:label | "ファロー四徴症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_32_040/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008542 |
| http://nanbyodata.jp/ontology/nanbyo#3000255 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "196" xsd:string |
| dcterms:identifier | "3000255" xsd:string |
| hasExactSynonym | "Taussig-Bing anomaly" @en |
| hasExactSynonym | "Taussig-Bing奇形" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_33_041_01.pdf |
| rdfs:label | "タウジッヒ・ビング奇形" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_33_041/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000256 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "197" xsd:string |
| dcterms:identifier | "3000256" xsd:string |
| hasExactSynonym | "Double-outlet right ventricle" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_34_042_01.pdf |
| rdfs:label | "両大血管右室起始症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_34_042/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016581 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018089 |
| http://nanbyodata.jp/ontology/nanbyo#3000257 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "198" xsd:string |
| dcterms:identifier | "3000257" xsd:string |
| hasExactSynonym | "Double-outlet left ventricle" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_34_043_01.pdf |
| rdfs:label | "両大血管左室起始症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_34_043/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018090 |
| http://nanbyodata.jp/ontology/nanbyo#3000258 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "199" xsd:string |
| dcterms:identifier | "3000258" xsd:string |
| hasExactSynonym | "Complete transposition of the great arteries" @en |
| hasExactSynonym | "complete tga" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_35_044_01.pdf |
| rdfs:label | "完全大血管転位症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_35_044/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000259 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "200" xsd:string |
| dcterms:identifier | "3000259" xsd:string |
| hasExactSynonym | "Congenitally corrected transposition of the great arteries" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_36_045_01.pdf |
| rdfs:label | "先天性修正大血管転位症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_36_045/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016301 |
| http://nanbyodata.jp/ontology/nanbyo#3000260 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "201" xsd:string |
| dcterms:identifier | "3000260" xsd:string |
| hasExactSynonym | "Ebstein’s anomaly" @en |
| hasExactSynonym | "Ebstein病" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_37_046_01.pdf |
| rdfs:label | "エプスタイン病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_37_046/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000261 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "202" xsd:string |
| dcterms:identifier | "3000261" xsd:string |
| hasExactSynonym | "Truncus arteriosus communis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_38_047_01.pdf |
| rdfs:label | "総動脈幹遺残症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_38_047/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016581 |
| http://nanbyodata.jp/ontology/nanbyo#3000262 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "203" xsd:string |
| dcterms:identifier | "3000262" xsd:string |
| hasExactSynonym | "Aorto-pulmonary window" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_39_048_01.pdf |
| rdfs:label | "大動脈肺動脈窓" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_39_048/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0021902 |
| http://nanbyodata.jp/ontology/nanbyo#3000263 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "204" xsd:string |
| dcterms:identifier | "3000263" xsd:string |
| hasExactSynonym | "Cor triatriatum" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_40_049_01.pdf |
| rdfs:label | "三心房心" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_40_049/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015450 |
| http://nanbyodata.jp/ontology/nanbyo#3000264 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "205" xsd:string |
| dcterms:identifier | "3000264" xsd:string |
| hasExactSynonym | "Patent ductus arteriosus" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_41_050_01.pdf |
| rdfs:label | "動脈管開存症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_41_050/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011827 |
| http://nanbyodata.jp/ontology/nanbyo#3000265 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "206" xsd:string |
| dcterms:identifier | "3000265" xsd:string |
| hasExactSynonym | "Common atrium" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_42_051_01.pdf |
| rdfs:label | "単心房症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_42_051/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000266 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "207" xsd:string |
| dcterms:identifier | "3000266" xsd:string |
| hasExactSynonym | "Atrial septal defect, ostium secundum type" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_43_052_01.pdf |
| rdfs:label | "二次孔型心房中隔欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_43_052/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020434 |
| http://nanbyodata.jp/ontology/nanbyo#3000267 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "208" xsd:string |
| dcterms:identifier | "3000267" xsd:string |
| hasExactSynonym | "Atrial septal defect, sinus venosus type" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_43_053_01.pdf |
| rdfs:label | "静脈洞型心房中隔欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_43_053/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020436 |
| http://nanbyodata.jp/ontology/nanbyo#3000268 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "209" xsd:string |
| dcterms:identifier | "3000268" xsd:string |
| hasExactSynonym | "Incomplete atrioventricular septal defect" @en |
| hasExactSynonym | "不完全型心内膜床欠損症" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_43_054_01.pdf |
| rdfs:label | "不完全型房室中隔欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_43_054/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000269 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "210" xsd:string |
| dcterms:identifier | "3000269" xsd:string |
| hasExactSynonym | "Complete atrioventricular septal defect" @en |
| hasExactSynonym | "完全型心内膜床欠損症" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_43_055_01.pdf |
| rdfs:label | "完全型房室中隔欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_43_055/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015273 |
| http://nanbyodata.jp/ontology/nanbyo#3000270 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "211" xsd:string |
| dcterms:identifier | "3000270" xsd:string |
| hasExactSynonym | "Ventricular septal defect" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_44_056_01.pdf |
| rdfs:label | "心室中隔欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_44_056/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000271 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "212" xsd:string |
| dcterms:identifier | "3000271" xsd:string |
| hasExactSynonym | "Total anomalous pulmonary venous connection" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_45_057_01.pdf |
| rdfs:label | "総肺静脈還流異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_45_057/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000272 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "213" xsd:string |
| dcterms:identifier | "3000272" xsd:string |
| hasExactSynonym | "Partial anomalous pulmonary venous connection" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_46_058_01.pdf |
| rdfs:label | "部分肺静脈還流異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_46_058/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000273 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "214" xsd:string |
| dcterms:identifier | "3000273" xsd:string |
| hasExactSynonym | "Pulmonary venous obstruction" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_46_059_01.pdf |
| rdfs:label | "肺静脈狭窄症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_46_059/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000274 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "215" xsd:string |
| dcterms:identifier | "3000274" xsd:string |
| hasExactSynonym | "Left ventricular-right atrial communication" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_47_060_01.pdf |
| rdfs:label | "左室右房交通症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_47_060/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020428 |
| http://nanbyodata.jp/ontology/nanbyo#3000275 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "216" xsd:string |
| dcterms:identifier | "3000275" xsd:string |
| hasExactSynonym | "Double-chambered right ventricle" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_48_061_01.pdf |
| rdfs:label | "右室二腔症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_48_061/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000276 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "217" xsd:string |
| dcterms:identifier | "3000276" xsd:string |
| hasExactSynonym | "Subvalvular pulmonary stenosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_49_062_01.pdf |
| rdfs:label | "肺動脈弁下狭窄症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_49_062/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000277 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "218" xsd:string |
| dcterms:identifier | "3000277" xsd:string |
| hasExactSynonym | "Subvalvular aortic stenosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_50_063_01.pdf |
| rdfs:label | "大動脈弁下狭窄症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_50_063/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0006987 |
| http://nanbyodata.jp/ontology/nanbyo#3000278 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "219" xsd:string |
| dcterms:identifier | "3000278" xsd:string |
| hasExactSynonym | "Supravalvular pulmonary stenosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_51_064_01.pdf |
| rdfs:label | "肺動脈弁上狭窄症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_51_064/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017870 |
| http://nanbyodata.jp/ontology/nanbyo#3000279 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "220" xsd:string |
| dcterms:identifier | "3000279" xsd:string |
| hasExactSynonym | "Peripheral pulmonary stenosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_52_065_01.pdf |
| rdfs:label | "末梢性肺動脈狭窄症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_52_065/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020420y |
| http://nanbyodata.jp/ontology/nanbyo#3000280 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "221" xsd:string |
| dcterms:identifier | "3000280" xsd:string |
| hasExactSynonym | "Absent pulmonary valve" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_52_066_01.pdf |
| rdfs:label | "肺動脈弁欠損" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_52_066/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020064 |
| http://nanbyodata.jp/ontology/nanbyo#3000281 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "222" xsd:string |
| dcterms:identifier | "3000281" xsd:string |
| hasExactSynonym | "Origin of pulmonary artery from ascending aorta" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_53_067_01.pdf |
| rdfs:label | "肺動脈上行大動脈起始症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_53_067/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000282 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "223" xsd:string |
| dcterms:identifier | "3000282" xsd:string |
| hasExactSynonym | "Unilateral absence of a pulmonary artery" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_54_068_01.pdf |
| rdfs:label | "一側肺動脈欠損" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_54_068/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000283 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "224" xsd:string |
| dcterms:identifier | "3000283" xsd:string |
| hasExactSynonym | "Coarctation of the aorta" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_55_069_01.pdf |
| rdfs:label | "大動脈縮窄症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_55_069/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007345 |
| http://nanbyodata.jp/ontology/nanbyo#3000284 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "225" xsd:string |
| dcterms:identifier | "3000284" xsd:string |
| hasExactSynonym | "Coarctation complex" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_56_070_01.pdf |
| rdfs:label | "大動脈縮窄複合" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_56_070/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000285 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "226" xsd:string |
| dcterms:identifier | "3000285" xsd:string |
| hasExactSynonym | "Supravalvular aortic stenosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_56_071_01.pdf |
| rdfs:label | "大動脈弁上狭窄症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_56_071/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008504 |
| http://nanbyodata.jp/ontology/nanbyo#3000286 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "227" xsd:string |
| dcterms:identifier | "3000286" xsd:string |
| hasExactSynonym | "Williams syndrome" @en |
| hasExactSynonym | "Williams症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_56_072_01.pdf |
| rdfs:label | "ウィリアムズ症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_56_072/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008678 |
| http://nanbyodata.jp/ontology/nanbyo#3000287 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "228" xsd:string |
| dcterms:identifier | "3000287" xsd:string |
| hasExactSynonym | "Coarctation of the aorta" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_56_073_01.pdf |
| rdfs:label | "70から73までに掲げるもののほか、大動脈狭窄症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_56_073/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007345 |
| http://nanbyodata.jp/ontology/nanbyo#3000288 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "229" xsd:string |
| dcterms:identifier | "3000288" xsd:string |
| hasExactSynonym | "Interruption of aortic arch complex" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_56_074_01.pdf |
| rdfs:label | "大動脈弓離断複合" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_56_074/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000289 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "230" xsd:string |
| dcterms:identifier | "3000289" xsd:string |
| hasExactSynonym | "Aortic arch occlusive disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_57_075_01.pdf |
| rdfs:label | "大動脈弓閉塞症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_57_075/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000290 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "231" xsd:string |
| dcterms:identifier | "3000290" xsd:string |
| hasExactSynonym | "Double aortic arch disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_57_076_01.pdf |
| rdfs:label | "重複大動脈弓症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_57_076/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000291 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "232" xsd:string |
| dcterms:identifier | "3000291" xsd:string |
| hasExactSynonym | "Vascular sling" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_58_077_01.pdf |
| rdfs:label | "左肺動脈右肺動脈起始症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_58_077/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000292 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "233" xsd:string |
| dcterms:identifier | "3000292" xsd:string |
| hasExactSynonym | "Vascular ring" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_58_078_01.pdf |
| rdfs:label | "77及び78に掲げるもののほか、血管輪" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_58_078/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000293 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "234" xsd:string |
| dcterms:identifier | "3000293" xsd:string |
| hasExactSynonym | "Aneurysm of sinus valsalva" @en |
| hasExactSynonym | "Valsalva洞動脈瘤" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_58_079_01.pdf |
| rdfs:label | "バルサルバ洞動脈瘤" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_58_079/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000294 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "235" xsd:string |
| dcterms:identifier | "3000294" xsd:string |
| hasExactSynonym | "Aortic aneurysm" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_59_080_01.pdf |
| rdfs:label | "大動脈瘤" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_59_080/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005160 |
| http://nanbyodata.jp/ontology/nanbyo#3000295 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "236" xsd:string |
| dcterms:identifier | "3000295" xsd:string |
| hasExactSynonym | "Pulmonary arteriovenous fistulae" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_59_081_01.pdf |
| rdfs:label | "肺動静脈瘻" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_59_081/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000296 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "237" xsd:string |
| dcterms:identifier | "3000296" xsd:string |
| hasExactSynonym | "Coronary artery fistula" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_60_082_01.pdf |
| rdfs:label | "冠動脈瘻" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_60_082/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000297 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "238" xsd:string |
| dcterms:identifier | "3000297" xsd:string |
| hasExactSynonym | "Arteriovenous fistulae" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_60_083_01.pdf |
| rdfs:label | "82及び83に掲げるもののほか、動静脈瘻" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_60_083/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000298 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "239" xsd:string |
| dcterms:identifier | "3000298" xsd:string |
| hasExactSynonym | "Idiopathic pulmonary arterial hypertension" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_60_084_01.pdf |
| rdfs:label | "肺動脈性肺高血圧症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_60_084/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000299 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "240" xsd:string |
| dcterms:identifier | "3000299" xsd:string |
| hasExactSynonym | "Chronic cor pulmonale" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_61_085_01.pdf |
| rdfs:label | "慢性肺性心" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_61_085/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000300 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "241" xsd:string |
| dcterms:identifier | "3000300" xsd:string |
| hasExactSynonym | "Tricuspid valve stenosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_62_086_01.pdf |
| rdfs:label | "三尖弁狭窄症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_62_086/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005997 |
| http://nanbyodata.jp/ontology/nanbyo#3000301 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "242" xsd:string |
| dcterms:identifier | "3000301" xsd:string |
| hasExactSynonym | "Tricuspid valve regurgitation" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_63_087_01.pdf |
| rdfs:label | "三尖弁閉鎖不全症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_63_087/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002870 |
| http://nanbyodata.jp/ontology/nanbyo#3000302 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "243" xsd:string |
| dcterms:identifier | "3000302" xsd:string |
| hasExactSynonym | "Mitral valve stenosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_63_088_01.pdf |
| rdfs:label | "僧帽弁狭窄症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_63_088/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005852 |
| http://nanbyodata.jp/ontology/nanbyo#3000303 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "244" xsd:string |
| dcterms:identifier | "3000303" xsd:string |
| hasExactSynonym | "Mitral valve stenosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_63_089_01.pdf |
| rdfs:label | "僧帽弁閉鎖不全症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_63_089/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005852 |
| http://nanbyodata.jp/ontology/nanbyo#3000304 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "245" xsd:string |
| dcterms:identifier | "3000304" xsd:string |
| hasExactSynonym | "Pulmonary valve stenosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_63_090_01.pdf |
| rdfs:label | "肺動脈弁狭窄症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_63_090/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0006936 |
| http://nanbyodata.jp/ontology/nanbyo#3000305 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "246" xsd:string |
| dcterms:identifier | "3000305" xsd:string |
| hasExactSynonym | "Pulmonary valve regurgitation" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_63_091_01.pdf |
| rdfs:label | "肺動脈弁閉鎖不全症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_63_091/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001927 |
| http://nanbyodata.jp/ontology/nanbyo#3000306 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "247" xsd:string |
| dcterms:identifier | "3000306" xsd:string |
| hasExactSynonym | "Aortic valve stenosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_63_092_01.pdf |
| rdfs:label | "大動脈弁狭窄症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_63_092/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0004978 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013902 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0042981 |
| http://nanbyodata.jp/ontology/nanbyo#3000307 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "248" xsd:string |
| dcterms:identifier | "3000307" xsd:string |
| hasExactSynonym | "Aortic valve regurgitation" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_63_093_01.pdf |
| rdfs:label | "大動脈弁閉鎖不全症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_63_093/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000308 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "249" xsd:string |
| dcterms:identifier | "3000308" xsd:string |
| hasExactSynonym | "Supramitral ring" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_63_094_01.pdf |
| rdfs:label | "僧帽弁弁上輪" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_63_094/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000309 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "250" xsd:string |
| dcterms:identifier | "3000309" xsd:string |
| hasExactSynonym | "Asplenia syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_64_095_01.pdf |
| rdfs:label | "無脾症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_64_095/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008832 |
| http://nanbyodata.jp/ontology/nanbyo#3000310 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "251" xsd:string |
| dcterms:identifier | "3000310" xsd:string |
| hasExactSynonym | "Polysplenia syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_65_096_01.pdf |
| rdfs:label | "多脾症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_65_096/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008832 |
| http://nanbyodata.jp/ontology/nanbyo#3000311 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "252" xsd:string |
| dcterms:identifier | "3000311" xsd:string |
| hasExactSynonym | "Fontan術後症候群" @ja |
| hasExactSynonym | "Post-Fontan syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_65_097_01.pdf |
| rdfs:label | "フォンタン術後症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_65_097/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000312 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "253" xsd:string |
| dcterms:identifier | "3000312" xsd:string |
| hasExactSynonym | "Congenital hypopituitarism" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_04_66_098_01.pdf |
| rdfs:label | "先天性下垂体機能低下症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/04_66_098/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018762 |
| http://nanbyodata.jp/ontology/nanbyo#3000313 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "254" xsd:string |
| dcterms:identifier | "3000313" xsd:string |
| hasExactSynonym | "Acquired hypopituitarism" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_01_001_01.pdf |
| rdfs:label | "後天性下垂体機能低下症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_01_001/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019832 |
| http://nanbyodata.jp/ontology/nanbyo#3000314 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "255" xsd:string |
| dcterms:identifier | "3000314" xsd:string |
| hasExactSynonym | "Pituitary gigantism" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_01_002_01.pdf |
| rdfs:label | "下垂体性巨人症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_01_002/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020479 |
| http://nanbyodata.jp/ontology/nanbyo#3000315 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "256" xsd:string |
| dcterms:identifier | "3000315" xsd:string |
| hasExactSynonym | "Acromegaly" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_02_003_01.pdf |
| rdfs:label | "先端巨大症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_02_003/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019933 |
| http://nanbyodata.jp/ontology/nanbyo#3000316 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "257" xsd:string |
| dcterms:identifier | "3000316" xsd:string |
| hasExactSynonym | "GH分泌不全性低身長症" @ja |
| hasExactSynonym | "Growth hormone deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_03_004_01.pdf |
| rdfs:label | "成長ホルモン分泌不全性低身長症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_03_004/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000317 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "257" xsd:string |
| dcterms:identifier | "3000317" xsd:string |
| hasExactSynonym | "congenital growth hormone deficiency" @en |
| hasExactSynonym | "器質的GHD" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_03_004_01.pdf |
| rdfs:label | "器質的成長ホルモン分泌不全性低身長症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_03_004/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000316 |
| http://nanbyodata.jp/ontology/nanbyo#3000318 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "258" xsd:string |
| dcterms:identifier | "3000318" xsd:string |
| hasExactSynonym | "GH分泌不全性低身長症" @ja |
| hasExactSynonym | "Growth hormone deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_03_004_01.pdf |
| rdfs:label | "成長ホルモン分泌不全性低身長症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_03_004/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000319 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "258" xsd:string |
| dcterms:identifier | "3000319" xsd:string |
| hasExactSynonym | "Idiopathic growth hormone deficiency" @en |
| hasExactSynonym | "特発性GHD" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_03_004_01.pdf |
| rdfs:label | "特発性成長ホルモン分泌不全性低身長症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_03_004/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000318 |
| http://nanbyodata.jp/ontology/nanbyo#3000320 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "259" xsd:string |
| dcterms:identifier | "3000320" xsd:string |
| hasExactSynonym | "IGF1 insensitivity" @en |
| hasExactSynonym | "IGF－1不応症" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_04_005_01.pdf |
| rdfs:label | "インスリン様成長因子1不応症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_04_005/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000321 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "260" xsd:string |
| dcterms:identifier | "3000321" xsd:string |
| hasExactSynonym | "Growth hormone insensitivity" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_04_006_01.pdf |
| rdfs:label | "成長ホルモン不応性症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_04_006/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009877 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015892 |
| http://nanbyodata.jp/ontology/nanbyo#3000322 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "261" xsd:string |
| dcterms:identifier | "3000322" xsd:string |
| hasExactSynonym | "Hyperprolactinaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_05_007_01.pdf |
| rdfs:label | "高プロラクチン血症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_05_007/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005804 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0023209 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0024305 |
| http://nanbyodata.jp/ontology/nanbyo#3000323 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "262" xsd:string |
| dcterms:identifier | "3000323" xsd:string |
| hasExactSynonym | "ADH不適切分泌症候群" @ja |
| hasExactSynonym | "Syndrome of inappropriate secretion of antidiuretic hormone" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_05_008_01.pdf |
| rdfs:label | "抗利尿ホルモン不適切分泌症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_05_008/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0006802 |
| http://nanbyodata.jp/ontology/nanbyo#3000324 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "263" xsd:string |
| dcterms:identifier | "3000324" xsd:string |
| hasExactSynonym | "Central diabetes insipidus" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_06_009_01.pdf |
| rdfs:label | "中枢性尿崩症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_06_009/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007450 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015790 |
| http://nanbyodata.jp/ontology/nanbyo#3000325 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "264" xsd:string |
| dcterms:identifier | "3000325" xsd:string |
| hasExactSynonym | "" @en |
| hasExactSynonym | "本態性高ナトリウム血症" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_07_010_01.pdf |
| rdfs:label | "口渇中枢障害を伴う高ナトリウム血症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_07_010/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002254 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008840 |
| http://nanbyodata.jp/ontology/nanbyo#3000326 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "265" xsd:string |
| dcterms:identifier | "3000326" xsd:string |
| hasExactSynonym | "Nephrogenic diabetes insipidus" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_08_011_01.pdf |
| rdfs:label | "腎性尿崩症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_08_011/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016383 |
| http://nanbyodata.jp/ontology/nanbyo#3000327 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "266" xsd:string |
| dcterms:identifier | "3000327" xsd:string |
| hasExactSynonym | "Cerebral salt wasting syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_08_012_01.pdf |
| rdfs:label | "中枢性塩喪失症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_08_012/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000328 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "267" xsd:string |
| dcterms:identifier | "3000328" xsd:string |
| hasExactSynonym | "Basedow disease" @en |
| hasExactSynonym | "Basedow病 " @ja |
| hasExactSynonym | "Graves' disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_08_013_01.pdf |
| rdfs:label | "バセドウ病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_08_013/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005364 |
| http://nanbyodata.jp/ontology/nanbyo#3000329 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "268" xsd:string |
| dcterms:identifier | "3000329" xsd:string |
| hasExactSynonym | "Hyperthyroidism" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_09_014_01.pdf |
| rdfs:label | "甲状腺機能亢進症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_09_014/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0004425 |
| http://nanbyodata.jp/ontology/nanbyo#3000330 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "269" xsd:string |
| dcterms:identifier | "3000330" xsd:string |
| hasExactSynonym | "Ectoic thyroid" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_10_015_01.pdf |
| rdfs:label | "異所性甲状腺" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_10_015/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000331 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "270" xsd:string |
| dcterms:identifier | "3000331" xsd:string |
| hasExactSynonym | "Thyroid agenesis" @en |
| hasExactSynonym | "athyreosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_10_016_01.pdf |
| rdfs:label | "無甲状腺症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_10_016/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019855 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0024264 |
| http://nanbyodata.jp/ontology/nanbyo#3000332 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "271" xsd:string |
| dcterms:identifier | "3000332" xsd:string |
| hasExactSynonym | "Thyroid-stimulating hormone deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_11_017_01.pdf |
| rdfs:label | "甲状腺刺激ホルモン分泌低下症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_11_017/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010139 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016410 |
| http://nanbyodata.jp/ontology/nanbyo#3000333 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "272" xsd:string |
| dcterms:identifier | "3000333" xsd:string |
| hasExactSynonym | "CH" @en |
| hasExactSynonym | "Congenital hypothyroidism" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_11_018_01.pdf |
| rdfs:label | "17から19までに掲げるもののほか、先天性甲状腺機能低下症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_11_018/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008090 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018612 |
| http://nanbyodata.jp/ontology/nanbyo#3000334 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "273" xsd:string |
| dcterms:identifier | "3000334" xsd:string |
| hasExactSynonym | "Hashimoto disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_11_019_01.pdf |
| rdfs:label | "橋本病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_11_019/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007699 |
| http://nanbyodata.jp/ontology/nanbyo#3000335 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "274" xsd:string |
| dcterms:identifier | "3000335" xsd:string |
| hasExactSynonym | "Atrophic thyroiditis" @en |
| hasExactSynonym | "primary myxedema" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_11_020_01.pdf |
| rdfs:label | "萎縮性甲状腺炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_11_020/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005624 |
| http://nanbyodata.jp/ontology/nanbyo#3000336 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "275" xsd:string |
| dcterms:identifier | "3000336" xsd:string |
| hasExactSynonym | "Other acquired hypothyroidism" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_11_021_01.pdf |
| rdfs:label | "21及び22に掲げるもののほか、後天性甲状腺機能低下症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_11_021/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000337 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "275" xsd:string |
| dcterms:identifier | "3000337" xsd:string |
| hasExactSynonym | "radiation-induced hypothyroidism" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_11_021_01.pdf |
| rdfs:label | "放射線性甲状腺機能低下症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_11_021/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000336 |
| http://nanbyodata.jp/ontology/nanbyo#3000338 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "275" xsd:string |
| dcterms:identifier | "3000338" xsd:string |
| hasExactSynonym | "drug-induced hypothyroidism" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_11_021_01.pdf |
| rdfs:label | "薬剤性甲状腺機能低下症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_11_021/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000336 |
| http://nanbyodata.jp/ontology/nanbyo#3000339 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "275" xsd:string |
| dcterms:identifier | "3000339" xsd:string |
| hasExactSynonym | "central hypothyroidism" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_11_021_01.pdf |
| rdfs:label | "中枢性甲状腺機能低下症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_11_021/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000336 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016410 |
| http://nanbyodata.jp/ontology/nanbyo#3000340 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "276" xsd:string |
| dcterms:identifier | "3000340" xsd:string |
| hasExactSynonym | "Resistance to thyroid hormone" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_11_022_01.pdf |
| rdfs:label | "甲状腺ホルモン不応症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_11_022/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000341 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "277" xsd:string |
| dcterms:identifier | "3000341" xsd:string |
| hasExactSynonym | "Adenomatous goitre" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_11_023_01.pdf |
| rdfs:label | "腺腫様甲状腺腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_11_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000342 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "278" xsd:string |
| dcterms:identifier | "3000342" xsd:string |
| hasExactSynonym | "Hyperparathyroidism" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_12_024_01.pdf |
| rdfs:label | "副甲状腺機能亢進症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_12_024/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001741 |
| http://nanbyodata.jp/ontology/nanbyo#3000343 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "279" xsd:string |
| dcterms:identifier | "3000343" xsd:string |
| hasExactSynonym | "Parathyroid gland defect" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_13_025_01.pdf |
| rdfs:label | "副甲状腺欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_13_025/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000344 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "280" xsd:string |
| dcterms:identifier | "3000344" xsd:string |
| hasExactSynonym | "Hypoparathyroidism" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_14_026_01.pdf |
| rdfs:label | "副甲状腺機能低下症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_14_026/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001220 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015895 |
| http://nanbyodata.jp/ontology/nanbyo#3000345 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "281" xsd:string |
| dcterms:identifier | "3000345" xsd:string |
| hasExactSynonym | "Autoimmune polyendocrinopathy type 1" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_15_027_01.pdf |
| rdfs:label | "自己免疫性多内分泌腺症候群 1型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_15_027/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009411 |
| http://nanbyodata.jp/ontology/nanbyo#3000346 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "282" xsd:string |
| dcterms:identifier | "3000346" xsd:string |
| hasExactSynonym | "Autoimmune polyendocrinopathy type 2" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_15_028_01.pdf |
| rdfs:label | "自己免疫性多内分泌腺症候群 2型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_15_028/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010012 |
| http://nanbyodata.jp/ontology/nanbyo#3000347 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "283" xsd:string |
| dcterms:identifier | "3000347" xsd:string |
| hasExactSynonym | "Pseudopseudohypoparathyroidism" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_16_029_01.pdf |
| rdfs:label | "偽性偽性副甲状腺機能低下症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_16_029/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012912 |
| http://nanbyodata.jp/ontology/nanbyo#3000348 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "284" xsd:string |
| dcterms:identifier | "3000348" xsd:string |
| hasExactSynonym | "Pseudohypoparathyroidism" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_16_030_01.pdf |
| rdfs:label | "偽性副甲状腺機能低下症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_16_030/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019992 |
| http://nanbyodata.jp/ontology/nanbyo#3000349 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "285" xsd:string |
| dcterms:identifier | "3000349" xsd:string |
| hasExactSynonym | "Cushing disease" @en |
| hasExactSynonym | "Cushing病" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_17_031_01.pdf |
| rdfs:label | "クッシング病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_17_031/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0003009 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009050 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018912 |
| http://nanbyodata.jp/ontology/nanbyo#3000350 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "286" xsd:string |
| dcterms:identifier | "3000350" xsd:string |
| hasExactSynonym | "ACTH産生症候群" @ja |
| hasExactSynonym | "Ectopic ACTH syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_17_032_01.pdf |
| rdfs:label | "異所性副腎皮質刺激ホルモン産生症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_17_032/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0043472 |
| http://nanbyodata.jp/ontology/nanbyo#3000351 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "287" xsd:string |
| dcterms:identifier | "3000351" xsd:string |
| hasExactSynonym | "Adrenal adenoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_18_033_01.pdf |
| rdfs:label | "副腎腺腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_18_033/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0003924 |
| http://nanbyodata.jp/ontology/nanbyo#3000352 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "288" xsd:string |
| dcterms:identifier | "3000352" xsd:string |
| hasExactSynonym | "ACTH-independent macronodular adrenal hyperplasia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_18_034_01.pdf |
| rdfs:label | "副腎皮質結節性過形成" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_18_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020735 |
| http://nanbyodata.jp/ontology/nanbyo#3000353 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "289" xsd:string |
| dcterms:identifier | "3000353" xsd:string |
| hasExactSynonym | "Cushing syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_18_035_01.pdf |
| rdfs:label | "33から36までに掲げるもののほか、クッシング（Cushing）症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_18_035/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0003009 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009050 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018912 |
| http://nanbyodata.jp/ontology/nanbyo#3000354 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "290" xsd:string |
| dcterms:identifier | "3000354" xsd:string |
| hasExactSynonym | "ACTH単独欠損症" @ja |
| hasExactSynonym | "Isolated ACTH deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_18_036_01.pdf |
| rdfs:label | "副腎皮質刺激ホルモン単独欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_18_036/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000355 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "291" xsd:string |
| dcterms:identifier | "3000355" xsd:string |
| hasExactSynonym | "ACTH unresponsiveness" @en |
| hasExactSynonym | "ACTH不応症" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_18_037_01.pdf |
| rdfs:label | "副腎皮質刺激ホルモン不応症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_18_037/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000356 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "292" xsd:string |
| dcterms:identifier | "3000356" xsd:string |
| hasExactSynonym | "Congenital adrenal hypoplasia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_19_038_01.pdf |
| rdfs:label | "先天性副腎低形成症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_19_038/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010264 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016241 |
| http://nanbyodata.jp/ontology/nanbyo#3000357 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "293" xsd:string |
| dcterms:identifier | "3000357" xsd:string |
| hasExactSynonym | "Glucocorticoid resistance" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_19_039_01.pdf |
| rdfs:label | "グルココルチコイド抵抗症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_19_039/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0014421 |
| http://nanbyodata.jp/ontology/nanbyo#3000358 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "294" xsd:string |
| dcterms:identifier | "3000358" xsd:string |
| hasExactSynonym | "Addison disease" @en |
| hasExactSynonym | "Other chronic adrenal insufficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_19_040_01.pdf |
| rdfs:label | "38から41までに掲げるもののほか、慢性副腎皮質機能低下症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_19_040/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009410 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015129 |
| http://nanbyodata.jp/ontology/nanbyo#3000359 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "294" xsd:string |
| dcterms:identifier | "3000359" xsd:string |
| hasExactSynonym | "Addison disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_19_040_01.pdf |
| rdfs:label | "アジソン病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_19_040/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000358 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009410 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015129 |
| http://nanbyodata.jp/ontology/nanbyo#3000360 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "295" xsd:string |
| dcterms:identifier | "3000360" xsd:string |
| hasExactSynonym | "Aldosteronism" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_19_041_01.pdf |
| rdfs:label | "アルドステロン症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_19_041/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000361 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "296" xsd:string |
| dcterms:identifier | "3000361" xsd:string |
| hasExactSynonym | "AME syndrome" @en |
| hasExactSynonym | "AME症候群" @ja |
| hasExactSynonym | "Apparent mineralocorticoid excess syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_19_042_01.pdf |
| rdfs:label | "見かけの鉱質コルチコイド過剰症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_19_042/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0006657 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009025 |
| http://nanbyodata.jp/ontology/nanbyo#3000362 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "297" xsd:string |
| dcterms:identifier | "3000362" xsd:string |
| hasExactSynonym | "Liddle syndrome" @en |
| hasExactSynonym | "Liddle症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_20_043_01.pdf |
| rdfs:label | "リドル症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_20_043/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008323 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020607 |
| http://nanbyodata.jp/ontology/nanbyo#3000364 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "299" xsd:string |
| dcterms:identifier | "3000364" xsd:string |
| hasExactSynonym | "Aldosterone synthase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_22_045_01.pdf |
| rdfs:label | "アルドステロン合成酵素欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_22_045/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020489 |
| http://nanbyodata.jp/ontology/nanbyo#3000366 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "301" xsd:string |
| dcterms:identifier | "3000366" xsd:string |
| hasExactSynonym | "Pseudohypoaldosteronism" @en |
| hasExactSynonym | "Pseudohypoaldosteronism type1" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_23_047_01.pdf |
| rdfs:label | "偽性低アルドステロン症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_23_047/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018638 |
| http://nanbyodata.jp/ontology/nanbyo#3000367 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "301" xsd:string |
| dcterms:identifier | "3000367" xsd:string |
| hasExactSynonym | "" @en |
| hasExactSynonym | "Pseudohypoaldosteronism type2" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_23_047_01.pdf |
| rdfs:label | "偽性低アルドステロン症Ⅱ型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_23_047/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000366 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002254 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008840 |
| http://nanbyodata.jp/ontology/nanbyo#3000368 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "302" xsd:string |
| dcterms:identifier | "3000368" xsd:string |
| hasExactSynonym | "Congenital lipoid adrenal hyperplasia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_23_048_01.pdf |
| rdfs:label | "リポイド副腎過形成症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_23_048/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018479 |
| http://nanbyodata.jp/ontology/nanbyo#3000369 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "303" xsd:string |
| dcterms:identifier | "3000369" xsd:string |
| hasExactSynonym | "3 beta-hydroxysteroid dehydrogenase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_24_049_01.pdf |
| rdfs:label | "3β-ヒドロキシステロイド脱水素酵素欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_24_049/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008727 |
| http://nanbyodata.jp/ontology/nanbyo#3000370 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "304" xsd:string |
| dcterms:identifier | "3000370" xsd:string |
| hasExactSynonym | "11 beta-hydroxylase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_25_050_01.pdf |
| rdfs:label | "11β-水酸化酵素欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_25_050/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008729 |
| http://nanbyodata.jp/ontology/nanbyo#3000371 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "305" xsd:string |
| dcterms:identifier | "3000371" xsd:string |
| hasExactSynonym | "17 alpha-hydroxylase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_25_051_01.pdf |
| rdfs:label | "17α-水酸化酵素欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_25_051/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008730 |
| http://nanbyodata.jp/ontology/nanbyo#3000372 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "306" xsd:string |
| dcterms:identifier | "3000372" xsd:string |
| hasExactSynonym | "21-hydroxylase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_25_052_01.pdf |
| rdfs:label | "21-水酸化酵素欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_25_052/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008728 |
| http://nanbyodata.jp/ontology/nanbyo#3000373 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "307" xsd:string |
| dcterms:identifier | "3000373" xsd:string |
| hasExactSynonym | "P450 oxidoreductase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_25_053_01.pdf |
| rdfs:label | "P450酸化還元酵素欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_25_053/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000379 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "313" xsd:string |
| dcterms:identifier | "3000379" xsd:string |
| hasExactSynonym | "Kallmann syndrome" @en |
| hasExactSynonym | "Kallmann症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_27_059_01.pdf |
| rdfs:label | "カルマン症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_27_059/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018800 |
| http://nanbyodata.jp/ontology/nanbyo#3000381 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "315" xsd:string |
| dcterms:identifier | "3000381" xsd:string |
| hasExactSynonym | "Testicular dysgenesis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_29_061_01.pdf |
| rdfs:label | "精巣形成不全" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_29_061/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005437 |
| http://nanbyodata.jp/ontology/nanbyo#3000382 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "316" xsd:string |
| dcterms:identifier | "3000382" xsd:string |
| hasExactSynonym | "Ovarian dysgenesis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_29_062_01.pdf |
| rdfs:label | "卵巣形成不全" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_29_062/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009299 |
| http://nanbyodata.jp/ontology/nanbyo#3000383 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "317" xsd:string |
| dcterms:identifier | "3000383" xsd:string |
| hasExactSynonym | "Hypergonadotropic hypogonadism of other etiologies" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_30_063_01.pdf |
| rdfs:label | "63及び64に掲げるもののほか、高ゴナドトロピン性性腺機能低下症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_30_063/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000384 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "317" xsd:string |
| dcterms:identifier | "3000384" xsd:string |
| hasExactSynonym | "Klinefelter syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_30_063_01.pdf |
| rdfs:label | "Klinefelter症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_30_063/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000383 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0006823 |
| http://nanbyodata.jp/ontology/nanbyo#3000385 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "318" xsd:string |
| dcterms:identifier | "3000385" xsd:string |
| hasExactSynonym | "Ovotesticular dsd" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_30_064_01.pdf |
| rdfs:label | "卵精巣性性分化疾患" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_30_064/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010766 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016281 |
| http://nanbyodata.jp/ontology/nanbyo#3000386 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "319" xsd:string |
| dcterms:identifier | "3000386" xsd:string |
| hasExactSynonym | "Mixed gonadal dysgenesis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_30_065_01.pdf |
| rdfs:label | "混合性性腺異形成症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_30_065/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001969 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015779 |
| http://nanbyodata.jp/ontology/nanbyo#3000387 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "320" xsd:string |
| dcterms:identifier | "3000387" xsd:string |
| hasExactSynonym | "5 alpha-reductase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_31_066_01.pdf |
| rdfs:label | "5α-還元酵素欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_31_066/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009923 |
| http://nanbyodata.jp/ontology/nanbyo#3000388 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "321" xsd:string |
| dcterms:identifier | "3000388" xsd:string |
| hasExactSynonym | "17 beta-hydroxysteroid dehydrogenase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_31_067_01.pdf |
| rdfs:label | "17β-ヒドロキシステロイド脱水素酵素欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_31_067/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000389 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "322" xsd:string |
| dcterms:identifier | "3000389" xsd:string |
| hasExactSynonym | "Androgen insensitivity syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_31_068_01.pdf |
| rdfs:label | "アンドロゲン不応症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_31_068/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019154 |
| http://nanbyodata.jp/ontology/nanbyo#3000390 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "323" xsd:string |
| dcterms:identifier | "3000390" xsd:string |
| hasExactSynonym | "Other disorders of sex development of 46,XY" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_31_069_01.pdf |
| rdfs:label | "68から70までに掲げるもののほか、46,XY性分化疾患" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_31_069/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000392 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "325" xsd:string |
| dcterms:identifier | "3000392" xsd:string |
| hasExactSynonym | "Vipoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_31_071_01.pdf |
| rdfs:label | "VIP産生腫瘍" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_31_071/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000393 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "326" xsd:string |
| dcterms:identifier | "3000393" xsd:string |
| hasExactSynonym | "Gastrinoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_31_072_01.pdf |
| rdfs:label | "ガストリノーマ" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_31_072/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0003523 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019610 |
| http://nanbyodata.jp/ontology/nanbyo#3000394 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "327" xsd:string |
| dcterms:identifier | "3000394" xsd:string |
| hasExactSynonym | "Carcinoid syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_32_073_01.pdf |
| rdfs:label | "カルチノイド症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_32_073/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005369 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0006689 |
| http://nanbyodata.jp/ontology/nanbyo#3000395 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "328" xsd:string |
| dcterms:identifier | "3000395" xsd:string |
| hasExactSynonym | "Glucagonoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_32_074_01.pdf |
| rdfs:label | "グルカゴノーマ" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_32_074/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019959 |
| http://nanbyodata.jp/ontology/nanbyo#3000396 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "329" xsd:string |
| dcterms:identifier | "3000396" xsd:string |
| hasExactSynonym | "Insulinoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_32_075_01.pdf |
| rdfs:label | "インスリノーマ" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_32_075/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000397 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "330" xsd:string |
| dcterms:identifier | "3000397" xsd:string |
| hasExactSynonym | "Congenital hyperinsulinaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_33_076_01.pdf |
| rdfs:label | "先天性高インスリン血症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_33_076/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000398 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "331" xsd:string |
| dcterms:identifier | "3000398" xsd:string |
| hasExactSynonym | "Other hyperinsulinaemic hypoglycaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_34_077_01.pdf |
| rdfs:label | "77及び78に掲げるもののほか、高インスリン血性低血糖症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_34_077/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000399 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "332" xsd:string |
| dcterms:identifier | "3000399" xsd:string |
| hasExactSynonym | "Vitamin d-dependent rickets" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_34_078_01.pdf |
| rdfs:label | "ビタミンD依存性くる病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_34_078/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000400 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "333" xsd:string |
| dcterms:identifier | "3000400" xsd:string |
| hasExactSynonym | "Vitamin d resistant osteomalacia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_34_079_01.pdf |
| rdfs:label | "ビタミンD抵抗性骨軟化症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_34_079/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000401 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "334" xsd:string |
| dcterms:identifier | "3000401" xsd:string |
| hasExactSynonym | "Primary hypophosphataemic rickets" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_35_080_01.pdf |
| rdfs:label | "原発性低リン血症性くる病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_35_080/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000402 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "335" xsd:string |
| dcterms:identifier | "3000402" xsd:string |
| hasExactSynonym | "Lipodystrophy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_36_081_01.pdf |
| rdfs:label | "脂肪異栄養症（脂肪萎縮症）" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_36_081/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0006573 |
| http://nanbyodata.jp/ontology/nanbyo#3000403 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "336" xsd:string |
| dcterms:identifier | "3000403" xsd:string |
| hasExactSynonym | "MEN1" @en |
| hasExactSynonym | "Multiple endocrine neoplasia type 1" @en |
| hasExactSynonym | "Wermer syndrome" @en |
| hasExactSynonym | "Wermer症候群" @ja |
| hasExactSynonym | "ウェルマー症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_37_082_01.pdf |
| rdfs:label | "多発性内分泌腫瘍1型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_37_082/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007540 |
| http://nanbyodata.jp/ontology/nanbyo#3000404 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "337" xsd:string |
| dcterms:identifier | "3000404" xsd:string |
| hasExactSynonym | "MEN2" @en |
| hasExactSynonym | "Multiple endocrine neoplasia type 2" @en |
| hasExactSynonym | "Sipple syndrome" @en |
| hasExactSynonym | "Sipple症候群" @ja |
| hasExactSynonym | "シップル症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_38_083_01.pdf |
| rdfs:label | "多発性内分泌腫瘍2型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_38_083/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008234 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019003 |
| http://nanbyodata.jp/ontology/nanbyo#3000405 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "338" xsd:string |
| dcterms:identifier | "3000405" xsd:string |
| hasExactSynonym | "Multiple endocrine neoplasia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_39_084_01.pdf |
| rdfs:label | "84及び85に掲げるもののほか、多発性内分泌腫瘍" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_39_084/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017169 |
| http://nanbyodata.jp/ontology/nanbyo#3000406 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "339" xsd:string |
| dcterms:identifier | "3000406" xsd:string |
| hasExactSynonym | "Polycystic ovary syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_39_085_01.pdf |
| rdfs:label | "多嚢胞性卵巣症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_39_085/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008487 |
| http://nanbyodata.jp/ontology/nanbyo#3000407 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "340" xsd:string |
| dcterms:identifier | "3000407" xsd:string |
| hasExactSynonym | "Turner syndrome" @en |
| hasExactSynonym | "Turner症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_39_086_01.pdf |
| rdfs:label | "ターナー症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_39_086/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019499 |
| http://nanbyodata.jp/ontology/nanbyo#3000408 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "341" xsd:string |
| dcterms:identifier | "3000408" xsd:string |
| hasExactSynonym | "Prader-Willi syndrome" @en |
| hasExactSynonym | "Prader-Willi症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_40_087_01.pdf |
| rdfs:label | "プラダー・ウィリ症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_40_087/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008300 |
| http://nanbyodata.jp/ontology/nanbyo#3000409 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "342" xsd:string |
| dcterms:identifier | "3000409" xsd:string |
| hasExactSynonym | "McCune-Albright syndrome" @en |
| hasExactSynonym | "McCune-Albright症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_41_088_01.pdf |
| rdfs:label | "マッキューン・オルブライト症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_41_088/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018919 |
| http://nanbyodata.jp/ontology/nanbyo#3000410 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "343" xsd:string |
| dcterms:identifier | "3000410" xsd:string |
| hasExactSynonym | "Noonan syndrome" @en |
| hasExactSynonym | "Noonan症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_41_089_01.pdf |
| rdfs:label | "ヌーナン症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_41_089/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008104 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018997 |
| http://nanbyodata.jp/ontology/nanbyo#3000411 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "344" xsd:string |
| dcterms:identifier | "3000411" xsd:string |
| hasExactSynonym | "Bardet-Biedl syndrome" @en |
| hasExactSynonym | "Bardet-Biedl症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_41_090_01.pdf |
| rdfs:label | "バルデー・ビードル症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_41_090/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0014432 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015229 |
| http://nanbyodata.jp/ontology/nanbyo#3000412 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "345" xsd:string |
| dcterms:identifier | "3000412" xsd:string |
| hasExactSynonym | "JIA" @en |
| hasExactSynonym | "juvenile idiopathic arthritis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_41_091_01.pdf |
| rdfs:label | "若年性特発性関節炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_41_091/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011429 |
| http://nanbyodata.jp/ontology/nanbyo#3000413 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "346" xsd:string |
| dcterms:identifier | "3000413" xsd:string |
| hasExactSynonym | "SLE" @en |
| hasExactSynonym | "systemic lupus erythematosus" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_05_41_092_01.pdf |
| rdfs:label | "全身性エリテマトーデス" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/05_41_092/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007915 |
| http://nanbyodata.jp/ontology/nanbyo#3000414 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "347" xsd:string |
| dcterms:identifier | "3000414" xsd:string |
| hasExactSynonym | "PM" @en |
| hasExactSynonym | "juvenile polymyositis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_01_002_01.pdf |
| rdfs:label | "多発性筋炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_01_002/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019127 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019168 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019734 |
| http://nanbyodata.jp/ontology/nanbyo#3000415 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "348" xsd:string |
| dcterms:identifier | "3000415" xsd:string |
| hasExactSynonym | "Sjogren's syndrome" @en |
| hasExactSynonym | "Sjogren症候群" @ja |
| hasExactSynonym | "Sjögren's Syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_01_003_01.pdf |
| rdfs:label | "シェーグレン症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_01_003/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010030 |
| http://nanbyodata.jp/ontology/nanbyo#3000416 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "349" xsd:string |
| dcterms:identifier | "3000416" xsd:string |
| hasExactSynonym | "anti-phospholipid antibody syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_01_004_01.pdf |
| rdfs:label | "抗リン脂質抗体症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_01_004/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007140 |
| http://nanbyodata.jp/ontology/nanbyo#3000417 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "350" xsd:string |
| dcterms:identifier | "3000417" xsd:string |
| hasExactSynonym | "Behcet’s disease" @en |
| hasExactSynonym | "Behcet病" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_01_005_01.pdf |
| rdfs:label | "ベーチェット病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_01_005/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000418 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "351" xsd:string |
| dcterms:identifier | "3000418" xsd:string |
| hasExactSynonym | "Takayasu arteritis" @en |
| hasExactSynonym | "大動脈炎症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_01_006_01.pdf |
| rdfs:label | "高安動脈炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_01_006/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017991 |
| http://nanbyodata.jp/ontology/nanbyo#3000419 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "352" xsd:string |
| dcterms:identifier | "3000419" xsd:string |
| hasExactSynonym | "GPA" @en |
| hasExactSynonym | "granulomatosis with polyangiitis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_02_007_01.pdf |
| rdfs:label | "多発血管炎性肉芽腫症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_02_007/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012105 |
| http://nanbyodata.jp/ontology/nanbyo#3000420 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "353" xsd:string |
| dcterms:identifier | "3000420" xsd:string |
| hasExactSynonym | "PN" @en |
| hasExactSynonym | "polyangiitis nodosa" @en |
| hasExactSynonym | "結節性多発動脈炎" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_02_008_01.pdf |
| rdfs:label | "結節性多発血管炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_02_008/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011405 |
| http://nanbyodata.jp/ontology/nanbyo#3000421 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "354" xsd:string |
| dcterms:identifier | "3000421" xsd:string |
| hasExactSynonym | "MPA" @en |
| hasExactSynonym | "microscopic polyangiitis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_02_009_01.pdf |
| rdfs:label | "顕微鏡的多発血管炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_02_009/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019124 |
| http://nanbyodata.jp/ontology/nanbyo#3000422 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "355" xsd:string |
| dcterms:identifier | "3000422" xsd:string |
| hasExactSynonym | "EGPA" @en |
| hasExactSynonym | "eosinophilic granulomatosis with polyangiitis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_02_010_01.pdf |
| rdfs:label | "好酸球性多発血管炎性肉芽腫症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_02_010/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015943 |
| http://nanbyodata.jp/ontology/nanbyo#3000423 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "356" xsd:string |
| dcterms:identifier | "3000423" xsd:string |
| hasExactSynonym | "Relapsing Polychondritis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_02_011_01.pdf |
| rdfs:label | "再発性多発軟骨炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_02_011/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019125 |
| http://nanbyodata.jp/ontology/nanbyo#3000424 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "357" xsd:string |
| dcterms:identifier | "3000424" xsd:string |
| hasExactSynonym | "systemic sclerosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_03_012_01.pdf |
| rdfs:label | "強皮症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_03_012/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005100 |
| http://nanbyodata.jp/ontology/nanbyo#3000425 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "358" xsd:string |
| dcterms:identifier | "3000425" xsd:string |
| hasExactSynonym | "MCTD" @en |
| hasExactSynonym | "mixed connective tissue disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_04_013_01.pdf |
| rdfs:label | "混合性結合組織病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_04_013/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005854 |
| http://nanbyodata.jp/ontology/nanbyo#3000426 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "359" xsd:string |
| dcterms:identifier | "3000426" xsd:string |
| hasExactSynonym | "familiar Mediterranean fever" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_04_014_01.pdf |
| rdfs:label | "家族性地中海熱" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_04_014/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000427 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "360" xsd:string |
| dcterms:identifier | "3000427" xsd:string |
| hasExactSynonym | "cryopyrin-associated periodic syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_05_015_01.pdf |
| rdfs:label | "クリオピリン関連周期熱症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_05_015/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016168 |
| http://nanbyodata.jp/ontology/nanbyo#3000428 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "361" xsd:string |
| dcterms:identifier | "3000428" xsd:string |
| hasExactSynonym | "TNF receptor-associated periodic fever syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_05_016_01.pdf |
| rdfs:label | "TNF受容体関連周期性症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_05_016/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007727 |
| http://nanbyodata.jp/ontology/nanbyo#3000429 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "362" xsd:string |
| dcterms:identifier | "3000429" xsd:string |
| hasExactSynonym | "Blau syndrome" @en |
| hasExactSynonym | "Blau syndrome, early onset sarcoidosis" @en |
| hasExactSynonym | "Blau症候群" @ja |
| hasExactSynonym | "early onset sarcoidosis" @en |
| hasExactSynonym | "若年発症サルコイドーシス" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_05_017_01.pdf |
| rdfs:label | "ブラウ症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_05_017/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008523 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012281 |
| http://nanbyodata.jp/ontology/nanbyo#3000430 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "363" xsd:string |
| dcterms:identifier | "3000430" xsd:string |
| hasExactSynonym | "Nakajyo-Nishimura syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_05_018_01.pdf |
| rdfs:label | "中條・西村症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_05_018/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000431 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "364" xsd:string |
| dcterms:identifier | "3000431" xsd:string |
| hasExactSynonym | "hyper IgD syndrome" @en |
| hasExactSynonym | "mevalonate kinase deficiency" @en |
| hasExactSynonym | "メバロン酸キナーゼ欠損症" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_05_019_01.pdf |
| rdfs:label | "高IgD症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_05_019/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009849 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012481 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017708 |
| http://nanbyodata.jp/ontology/nanbyo#3000432 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "365" xsd:string |
| dcterms:identifier | "3000432" xsd:string |
| hasExactSynonym | "acne syndrome" @en |
| hasExactSynonym | "pyoderma gangrenosum" @en |
| hasExactSynonym | "pyogenic arthritis" @en |
| hasExactSynonym | "pyogenic arthritis, pyoderma gangrenosum, acne syndrome" @en |
| hasExactSynonym | "アクネ症候群" @ja |
| hasExactSynonym | "壊疽性膿皮症" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_05_020_01.pdf |
| rdfs:label | "化膿性無菌性関節炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_05_020/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0004471 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011438 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011462 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018824 |
| http://nanbyodata.jp/ontology/nanbyo#3000433 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "366" xsd:string |
| dcterms:identifier | "3000433" xsd:string |
| hasExactSynonym | "chronic recurrent multifocal osteomyelitis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_05_021_01.pdf |
| rdfs:label | "慢性再発性多発性骨髄炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_05_021/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009813 |
| http://nanbyodata.jp/ontology/nanbyo#3000434 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "367" xsd:string |
| dcterms:identifier | "3000434" xsd:string |
| hasExactSynonym | "deficiency of the interleukin-1-receptor antagonist" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_05_022_01.pdf |
| rdfs:label | "インターロイキンⅠ受容体拮抗分子欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_05_022/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000435 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "368" xsd:string |
| dcterms:identifier | "3000435" xsd:string |
| hasExactSynonym | "Other autoinflammatory diseases" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf |
| rdfs:label | "15から23までに掲げるもののほか、自己炎症性疾患" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_05_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000436 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "368" xsd:string |
| dcterms:identifier | "3000436" xsd:string |
| hasExactSynonym | "ADA2欠損症" @ja |
| hasExactSynonym | "Adenosine deaminase 2 deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf |
| rdfs:label | "Adenosine deaminase 2欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_05_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000435 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0014306 |
| http://nanbyodata.jp/ontology/nanbyo#3000437 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "368" xsd:string |
| dcterms:identifier | "3000437" xsd:string |
| hasExactSynonym | "APLAID" @en |
| hasExactSynonym | "Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf |
| rdfs:label | "自己炎症合併フォスフォリパーゼCγ2関連抗体欠損免疫異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_05_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000435 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013944 |
| http://nanbyodata.jp/ontology/nanbyo#3000438 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "368" xsd:string |
| dcterms:identifier | "3000438" xsd:string |
| hasExactSynonym | "CARD14 deficiency" @en |
| hasExactSynonym | "CARD14異常症" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf |
| rdfs:label | "Caspase recruitment domain-containing protein 14異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_05_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000435 |
| http://nanbyodata.jp/ontology/nanbyo#3000439 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "368" xsd:string |
| dcterms:identifier | "3000439" xsd:string |
| hasExactSynonym | "Cherubism" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf |
| rdfs:label | "ケルビズム" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_05_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000435 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007315 |
| http://nanbyodata.jp/ontology/nanbyo#3000440 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "368" xsd:string |
| dcterms:identifier | "3000440" xsd:string |
| hasExactSynonym | "IL-10RB deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf |
| rdfs:label | "IL-10/IL-10受容体遺伝子異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_05_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000435 |
| http://nanbyodata.jp/ontology/nanbyo#3000441 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "368" xsd:string |
| dcterms:identifier | "3000441" xsd:string |
| hasExactSynonym | "IL-10RA deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf |
| rdfs:label | "IL-10/IL-10受容体遺伝子異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_05_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000435 |
| http://nanbyodata.jp/ontology/nanbyo#3000442 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "368" xsd:string |
| dcterms:identifier | "3000442" xsd:string |
| hasExactSynonym | "IL10 deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf |
| rdfs:label | "IL-10/IL-10受容体遺伝子異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_05_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000435 |
| http://nanbyodata.jp/ontology/nanbyo#3000443 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "368" xsd:string |
| dcterms:identifier | "3000443" xsd:string |
| hasExactSynonym | "NLRP12-associated periodic syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf |
| rdfs:label | "NAPS12" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_05_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000435 |
| http://nanbyodata.jp/ontology/nanbyo#3000444 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "368" xsd:string |
| dcterms:identifier | "3000444" xsd:string |
| hasExactSynonym | "Adenosine deaminase 2 deficiency " @en |
| hasExactSynonym | "deficiency of the enzyme ADA2" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf |
| rdfs:label | "DADA2" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_05_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000435 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0014306 |
| http://nanbyodata.jp/ontology/nanbyo#3000445 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "368" xsd:string |
| dcterms:identifier | "3000445" xsd:string |
| hasExactSynonym | "PLCg2 deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf |
| rdfs:label | "PLCG2異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_05_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000435 |
| http://nanbyodata.jp/ontology/nanbyo#3000446 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "368" xsd:string |
| dcterms:identifier | "3000446" xsd:string |
| hasExactSynonym | "IL36RN deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf |
| rdfs:label | "IL36RN欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_05_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000435 |
| http://nanbyodata.jp/ontology/nanbyo#3000447 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "368" xsd:string |
| dcterms:identifier | "3000447" xsd:string |
| hasExactSynonym | "Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutropilic dermatosis" @en |
| hasExactSynonym | "MJDS" @en |
| hasExactSynonym | "Majeed syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf |
| rdfs:label | "Majeed症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_05_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000435 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012316 |
| http://nanbyodata.jp/ontology/nanbyo#3000448 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "368" xsd:string |
| dcterms:identifier | "3000448" xsd:string |
| hasExactSynonym | "NLRP12-associated periodic syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf |
| rdfs:label | "NLRP-12関連周期性症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_05_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000435 |
| http://nanbyodata.jp/ontology/nanbyo#3000449 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "368" xsd:string |
| dcterms:identifier | "3000449" xsd:string |
| hasExactSynonym | "PLAID" @en |
| hasExactSynonym | "PLCG2-associated antibody deficiency and immune dysregulation" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf |
| rdfs:label | "フォスフォリパーゼCγ2関連抗体欠損免疫異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_05_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000435 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013766 |
| http://nanbyodata.jp/ontology/nanbyo#3000450 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "368" xsd:string |
| dcterms:identifier | "3000450" xsd:string |
| hasExactSynonym | "RBCK1 deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf |
| rdfs:label | "RBCK1欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_05_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000435 |
| http://nanbyodata.jp/ontology/nanbyo#3000451 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "368" xsd:string |
| dcterms:identifier | "3000451" xsd:string |
| hasExactSynonym | "SLC29A3 deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf |
| rdfs:label | "SLC29A3異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_05_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000435 |
| http://nanbyodata.jp/ontology/nanbyo#3000452 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "368" xsd:string |
| dcterms:identifier | "3000452" xsd:string |
| hasExactSynonym | "A20 haploinsufficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf |
| rdfs:label | "A20ハプロ不全症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_05_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000435 |
| http://nanbyodata.jp/ontology/nanbyo#3000453 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "368" xsd:string |
| dcterms:identifier | "3000453" xsd:string |
| hasExactSynonym | "FCAS4" @en |
| hasExactSynonym | "Familial cold autoinflammatory syndrome 4" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf |
| rdfs:label | "NLRC４異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_05_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000435 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0014498 |
| http://nanbyodata.jp/ontology/nanbyo#3000454 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "370" xsd:string |
| dcterms:identifier | "3000454" xsd:string |
| hasExactSynonym | "Diabetes mellitus type 1" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_06_05_024_01.pdf |
| rdfs:label | "1型糖尿病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/06_05_024/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009100 |
| http://nanbyodata.jp/ontology/nanbyo#3000455 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "371" xsd:string |
| dcterms:identifier | "3000455" xsd:string |
| hasExactSynonym | "Diabetes mellitus type 2" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_07_01_001_01.pdf |
| rdfs:label | "2型糖尿病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/07_01_001/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007452 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007455 |
| http://nanbyodata.jp/ontology/nanbyo#3000456 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "372" xsd:string |
| dcterms:identifier | "3000456" xsd:string |
| hasExactSynonym | "MODY" @en |
| hasExactSynonym | "MODY" @ja |
| hasExactSynonym | "maturity-onset diabetes of the young" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_07_01_002_01.pdf |
| rdfs:label | "若年発症成人型糖尿病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/07_01_002/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018911 |
| http://nanbyodata.jp/ontology/nanbyo#3000457 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "373" xsd:string |
| dcterms:identifier | "3000457" xsd:string |
| hasExactSynonym | "neonatal diabetes mellitus" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_07_01_003_01.pdf |
| rdfs:label | "新生児糖尿病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/07_01_003/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016391 |
| http://nanbyodata.jp/ontology/nanbyo#3000458 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "374" xsd:string |
| dcterms:identifier | "3000458" xsd:string |
| hasExactSynonym | "insulin receptor abnormality" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_07_01_004_01.pdf |
| rdfs:label | "インスリン受容体異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/07_01_004/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000459 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "375" xsd:string |
| dcterms:identifier | "3000459" xsd:string |
| hasExactSynonym | "lipoatrophic diabetes" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_07_01_005_01.pdf |
| rdfs:label | "脂肪萎縮性糖尿病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/07_01_005/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005827 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007906 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018883 |
| http://nanbyodata.jp/ontology/nanbyo#3000460 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "376" xsd:string |
| dcterms:identifier | "3000460" xsd:string |
| hasExactSynonym | "Other diabetes mellitus" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_07_01_006_01.pdf |
| rdfs:label | "1から6までに掲げるもののほか、糖尿病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/07_01_006/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000461 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "377" xsd:string |
| dcterms:identifier | "3000461" xsd:string |
| hasExactSynonym | "PKU" @en |
| hasExactSynonym | "Phenylketonuria" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_07_01_007_01.pdf |
| rdfs:label | "フェニルケトン尿症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/07_01_007/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009861 |
| http://nanbyodata.jp/ontology/nanbyo#3000462 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "378" xsd:string |
| dcterms:identifier | "3000462" xsd:string |
| hasExactSynonym | "HPA" @en |
| hasExactSynonym | "Hyperphenylalaninemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_01_001_01.pdf |
| rdfs:label | "高フェニルアラニン血症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_01_001/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016543 |
| http://nanbyodata.jp/ontology/nanbyo#3000463 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "379" xsd:string |
| dcterms:identifier | "3000463" xsd:string |
| hasExactSynonym | "Tyrosinemia type 1" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_01_002_01.pdf |
| rdfs:label | "高チロシン血症１型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_01_002/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010161 |
| http://nanbyodata.jp/ontology/nanbyo#3000464 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "380" xsd:string |
| dcterms:identifier | "3000464" xsd:string |
| hasExactSynonym | "Tyrosinemia type 2" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_01_003_01.pdf |
| rdfs:label | "高チロシン血症２型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_01_003/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010160 |
| http://nanbyodata.jp/ontology/nanbyo#3000465 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "381" xsd:string |
| dcterms:identifier | "3000465" xsd:string |
| hasExactSynonym | "Tyrosinemia type 3" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_01_004_01.pdf |
| rdfs:label | "高チロシン血症３型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_01_004/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010162 |
| http://nanbyodata.jp/ontology/nanbyo#3000466 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "382" xsd:string |
| dcterms:identifier | "3000466" xsd:string |
| hasExactSynonym | "Hyperprolinemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_01_005_01.pdf |
| rdfs:label | "高プロリン血症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_01_005/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0023419 |
| http://nanbyodata.jp/ontology/nanbyo#3000467 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "383" xsd:string |
| dcterms:identifier | "3000467" xsd:string |
| hasExactSynonym | "Hyperimidodipeptiduria" @en |
| hasExactSynonym | "Prolidase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_01_006_01.pdf |
| rdfs:label | "プロリダーゼ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_01_006/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008221 |
| http://nanbyodata.jp/ontology/nanbyo#3000468 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "384" xsd:string |
| dcterms:identifier | "3000468" xsd:string |
| hasExactSynonym | "maple syrup urine disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_01_007_01.pdf |
| rdfs:label | "メープルシロップ尿症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_01_007/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009563 |
| http://nanbyodata.jp/ontology/nanbyo#3000469 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "385" xsd:string |
| dcterms:identifier | "3000469" xsd:string |
| hasExactSynonym | "Homocystinuria" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_01_008_01.pdf |
| rdfs:label | "ホモシスチン尿症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_01_008/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0004737 |
| http://nanbyodata.jp/ontology/nanbyo#3000470 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "386" xsd:string |
| dcterms:identifier | "3000470" xsd:string |
| hasExactSynonym | "Hypermethioninemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_01_009_01.pdf |
| rdfs:label | "高メチオニン血症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_01_009/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000351 |
| http://nanbyodata.jp/ontology/nanbyo#3000471 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "387" xsd:string |
| dcterms:identifier | "3000471" xsd:string |
| hasExactSynonym | "Nonketotic hyperglycinaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_01_010_01.pdf |
| rdfs:label | "非ケトーシス型高グリシン血症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_01_010/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000472 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "388" xsd:string |
| dcterms:identifier | "3000472" xsd:string |
| hasExactSynonym | "N-acetylglutamate synthetase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_01_011_01.pdf |
| rdfs:label | "N-アセチルグルタミン酸合成酵素欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_01_011/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009377 |
| http://nanbyodata.jp/ontology/nanbyo#3000473 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "389" xsd:string |
| dcterms:identifier | "3000473" xsd:string |
| hasExactSynonym | "Carbamoylphosphate synthetase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_01_012_01.pdf |
| rdfs:label | "カルバミルリン酸合成酵素欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_01_012/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009376 |
| http://nanbyodata.jp/ontology/nanbyo#3000474 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "390" xsd:string |
| dcterms:identifier | "3000474" xsd:string |
| hasExactSynonym | "Ornitine transcarbamylase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_01_013_01.pdf |
| rdfs:label | "オルニチントランスカルバミラーゼ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_01_013/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000475 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "391" xsd:string |
| dcterms:identifier | "3000475" xsd:string |
| hasExactSynonym | "Argininosuccinate synthetase deficiency" @en |
| hasExactSynonym | "Citrullinaemia type 1" @en |
| hasExactSynonym | "シトルリン血症" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_01_014_01.pdf |
| rdfs:label | "アルギニノコハク酸合成酵素欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_01_014/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008988 |
| http://nanbyodata.jp/ontology/nanbyo#3000476 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "392" xsd:string |
| dcterms:identifier | "3000476" xsd:string |
| hasExactSynonym | "Argininosuccinic aciduria" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_01_015_01.pdf |
| rdfs:label | "アルギニノコハク酸尿症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_01_015/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008815 |
| http://nanbyodata.jp/ontology/nanbyo#3000477 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "393" xsd:string |
| dcterms:identifier | "3000477" xsd:string |
| hasExactSynonym | "Hyperarginemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_01_016_01.pdf |
| rdfs:label | "高アルギニン血症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_01_016/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000478 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "394" xsd:string |
| dcterms:identifier | "3000478" xsd:string |
| hasExactSynonym | "Citrin deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_01_017_01.pdf |
| rdfs:label | "シトリン欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_01_017/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011326 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016602 |
| http://nanbyodata.jp/ontology/nanbyo#3000479 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "395" xsd:string |
| dcterms:identifier | "3000479" xsd:string |
| hasExactSynonym | "HHH" @en |
| hasExactSynonym | "Hyperornithinemia-Hyperammonemia-Homocitrullinuria" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_01_018_01.pdf |
| rdfs:label | "高オルニチン血症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_01_018/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009393 |
| http://nanbyodata.jp/ontology/nanbyo#3000480 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "395" xsd:string |
| dcterms:identifier | "3000480" xsd:string |
| hasExactSynonym | "" @en |
| hasExactSynonym | "gyrate atrophy of choroid and retina" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_01_018_01.pdf |
| rdfs:label | "脳回転状脈絡膜網膜萎縮症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_01_018/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000479 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002254 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008840 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009796 |
| http://nanbyodata.jp/ontology/nanbyo#3000481 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "396" xsd:string |
| dcterms:identifier | "3000481" xsd:string |
| hasExactSynonym | "Hartnup disease" @en |
| hasExactSynonym | "Hartnup病" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_01_019_01.pdf |
| rdfs:label | "ハートナップ病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_01_019/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009324 |
| http://nanbyodata.jp/ontology/nanbyo#3000482 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "397" xsd:string |
| dcterms:identifier | "3000482" xsd:string |
| hasExactSynonym | "Lysinuric protein intolerance" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_01_020_01.pdf |
| rdfs:label | "リジン尿性蛋白不耐症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_01_020/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009109 |
| http://nanbyodata.jp/ontology/nanbyo#3000483 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "398" xsd:string |
| dcterms:identifier | "3000483" xsd:string |
| hasExactSynonym | "Cystinuria" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_01_021_01.pdf |
| rdfs:label | "シスチン尿症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_01_021/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009067 |
| http://nanbyodata.jp/ontology/nanbyo#3000484 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "399" xsd:string |
| dcterms:identifier | "3000484" xsd:string |
| hasExactSynonym | "Other disorders of amino acid metabolism" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_01_022_01.pdf |
| rdfs:label | "1から21までに掲げるもののほか、アミノ酸代謝異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_01_022/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000485 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "400" xsd:string |
| dcterms:identifier | "3000485" xsd:string |
| hasExactSynonym | "MMA" @en |
| hasExactSynonym | "methylmalonic acidaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_02_023_01.pdf |
| rdfs:label | "メチルマロン酸血症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_02_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000486 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "401" xsd:string |
| dcterms:identifier | "3000486" xsd:string |
| hasExactSynonym | "PA" @en |
| hasExactSynonym | "propionic acidaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_02_024_01.pdf |
| rdfs:label | "プロピオン酸血症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_02_024/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000487 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "402" xsd:string |
| dcterms:identifier | "3000487" xsd:string |
| hasExactSynonym | "beta-ketothiolase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_02_025_01.pdf |
| rdfs:label | "β-ケトチオラーゼ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_02_025/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008760 |
| http://nanbyodata.jp/ontology/nanbyo#3000488 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "403" xsd:string |
| dcterms:identifier | "3000488" xsd:string |
| hasExactSynonym | "isovaleric acidaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_02_026_01.pdf |
| rdfs:label | "イソ吉草酸血症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_02_026/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000489 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "404" xsd:string |
| dcterms:identifier | "3000489" xsd:string |
| hasExactSynonym | "3-methylcrotonyl-CoA carboxylase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_02_027_01.pdf |
| rdfs:label | "3-メチルクロトニルCoAカルボキシラーゼ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_02_027/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008861 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018950 |
| http://nanbyodata.jp/ontology/nanbyo#3000490 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "405" xsd:string |
| dcterms:identifier | "3000490" xsd:string |
| hasExactSynonym | "Methylglutaconic aciduria" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_02_028_01.pdf |
| rdfs:label | "メチルグルタコン酸尿症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_02_028/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000491 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "406" xsd:string |
| dcterms:identifier | "3000491" xsd:string |
| hasExactSynonym | "3-hydroxy-3-methylglutaric acidaemia" @en |
| hasExactSynonym | "HMG-CoA lyase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_02_029_01.pdf |
| rdfs:label | "3-ヒドロキシ-3-メチルグルタル酸血症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_02_029/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009520 |
| http://nanbyodata.jp/ontology/nanbyo#3000492 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "407" xsd:string |
| dcterms:identifier | "3000492" xsd:string |
| hasExactSynonym | "3-hydroxy-3-methylglutaryl-CoA synthase deficiency" @en |
| hasExactSynonym | "HMG-CoA synthase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_02_030_01.pdf |
| rdfs:label | "3-ヒドロキシ-3-メチルグルタリルCoA合成酵素欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_02_030/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011614 |
| http://nanbyodata.jp/ontology/nanbyo#3000493 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "408" xsd:string |
| dcterms:identifier | "3000493" xsd:string |
| hasExactSynonym | "SCOT欠損症" @ja |
| hasExactSynonym | "succinyl-CoA:3-ketoacid CoA transferase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_02_031_01.pdf |
| rdfs:label | "スクシニル-CoA：3-ケト酸CoAトランスフェラーゼ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_02_031/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009492 |
| http://nanbyodata.jp/ontology/nanbyo#3000494 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "409" xsd:string |
| dcterms:identifier | "3000494" xsd:string |
| hasExactSynonym | "multiple carboxylase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_02_032_01.pdf |
| rdfs:label | "複合カルボキシラーゼ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_02_032/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009666 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015454 |
| http://nanbyodata.jp/ontology/nanbyo#3000495 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "410" xsd:string |
| dcterms:identifier | "3000495" xsd:string |
| hasExactSynonym | "Glutaric acidaemia type 1" @en |
| hasExactSynonym | "Glutaryl-CoA dehydrogenase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_02_033_01.pdf |
| rdfs:label | "グルタル酸血症１型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_02_033/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009281 |
| http://nanbyodata.jp/ontology/nanbyo#3000496 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "411" xsd:string |
| dcterms:identifier | "3000496" xsd:string |
| hasExactSynonym | "Glutaric acidaemia type 2" @en |
| hasExactSynonym | "Glutaric aciduria type 2" @en |
| hasExactSynonym | "multiple acyl-CoA dehydrogenase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_02_034_01.pdf |
| rdfs:label | "グルタル酸血症２型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_02_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009282 |
| http://nanbyodata.jp/ontology/nanbyo#3000497 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "412" xsd:string |
| dcterms:identifier | "3000497" xsd:string |
| hasExactSynonym | "Primary hyperoxaluria" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_02_035_01.pdf |
| rdfs:label | "原発性高シュウ酸尿症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_02_035/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002474 |
| http://nanbyodata.jp/ontology/nanbyo#3000498 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "413" xsd:string |
| dcterms:identifier | "3000498" xsd:string |
| hasExactSynonym | "Alkaptonuria" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_02_036_01.pdf |
| rdfs:label | "アルカプトン尿症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_02_036/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008753 |
| http://nanbyodata.jp/ontology/nanbyo#3000499 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "414" xsd:string |
| dcterms:identifier | "3000499" xsd:string |
| hasExactSynonym | "GKD" @en |
| hasExactSynonym | "Glycerol kinase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_02_037_01.pdf |
| rdfs:label | "グリセロール尿症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_02_037/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010613 |
| http://nanbyodata.jp/ontology/nanbyo#3000500 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "415" xsd:string |
| dcterms:identifier | "3000500" xsd:string |
| hasExactSynonym | "Inborn errors of bile acid metabolism" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_02_038_01.pdf |
| rdfs:label | "先天性胆汁酸代謝異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_02_038/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000501 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "416" xsd:string |
| dcterms:identifier | "3000501" xsd:string |
| hasExactSynonym | "Other disorders of organic acid metabolism" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_02_039_01.pdf |
| rdfs:label | "23から38までに掲げるもののほか、有機酸代謝異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_02_039/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000502 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "417" xsd:string |
| dcterms:identifier | "3000502" xsd:string |
| hasExactSynonym | "Carnitine uptake defect" @en |
| hasExactSynonym | "Organic cation transporter 2 deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_03_040_01.pdf |
| rdfs:label | "全身性カルニチン欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_03_040/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008919 |
| http://nanbyodata.jp/ontology/nanbyo#3000503 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "418" xsd:string |
| dcterms:identifier | "3000503" xsd:string |
| hasExactSynonym | "Carnitine palmitoyl transferase I deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_03_041_01.pdf |
| rdfs:label | "カルニチンパルミトイルトランスフェラーゼⅠ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_03_041/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009705 |
| http://nanbyodata.jp/ontology/nanbyo#3000504 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "419" xsd:string |
| dcterms:identifier | "3000504" xsd:string |
| hasExactSynonym | "Carnitine palmitoyl transferase II deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_03_042_01.pdf |
| rdfs:label | "カルニチンパルミトイルトランスフェラーゼⅡ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_03_042/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015515 |
| http://nanbyodata.jp/ontology/nanbyo#3000505 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "420" xsd:string |
| dcterms:identifier | "3000505" xsd:string |
| hasExactSynonym | "Carnitine-acylcarnitine translocase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_03_043_01.pdf |
| rdfs:label | "カルニチンアシルカルニチントランスロカーゼ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_03_043/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008918 |
| http://nanbyodata.jp/ontology/nanbyo#3000506 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "421" xsd:string |
| dcterms:identifier | "3000506" xsd:string |
| hasExactSynonym | "Very-long-chain acyl-CoA dehydrogenase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_03_044_01.pdf |
| rdfs:label | "極長鎖アシルCoA脱水素酵素欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_03_044/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000507 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "422" xsd:string |
| dcterms:identifier | "3000507" xsd:string |
| hasExactSynonym | "Medium-chain acyl-CoA dehydrogenase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_03_045_01.pdf |
| rdfs:label | "中鎖アシルCoA脱水素酵素欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_03_045/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008721 |
| http://nanbyodata.jp/ontology/nanbyo#3000508 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "423" xsd:string |
| dcterms:identifier | "3000508" xsd:string |
| hasExactSynonym | "Short-chain acyl-CoA dehydrogenase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_03_046_01.pdf |
| rdfs:label | "短鎖アシルCoA脱水素酵素欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_03_046/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008722 |
| http://nanbyodata.jp/ontology/nanbyo#3000509 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "424" xsd:string |
| dcterms:identifier | "3000509" xsd:string |
| hasExactSynonym | "Trifunctional protein deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_03_047_01.pdf |
| rdfs:label | "三頭酵素欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_03_047/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012172 |
| http://nanbyodata.jp/ontology/nanbyo#3000510 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "425" xsd:string |
| dcterms:identifier | "3000510" xsd:string |
| hasExactSynonym | "3-hydroxy acyl-CoA dehydrogenase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_03_048_01.pdf |
| rdfs:label | "3-ヒドロキシアシルCoA脱水素酵素欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_03_048/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009278 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017715 |
| http://nanbyodata.jp/ontology/nanbyo#3000511 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "426" xsd:string |
| dcterms:identifier | "3000511" xsd:string |
| hasExactSynonym | "Other disorders of fatty-acid metabolism" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_03_049_01.pdf |
| rdfs:label | "40から48までに掲げるもののほか、脂肪酸代謝異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_03_049/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000512 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "427" xsd:string |
| dcterms:identifier | "3000512" xsd:string |
| hasExactSynonym | "Pyruvate dehydrogenase complex deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_04_050_01.pdf |
| rdfs:label | "ピルビン酸脱水素酵素複合体欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_04_050/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010717 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019169 |
| http://nanbyodata.jp/ontology/nanbyo#3000513 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "428" xsd:string |
| dcterms:identifier | "3000513" xsd:string |
| hasExactSynonym | "Pyruvate carboxylase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_04_051_01.pdf |
| rdfs:label | "ピルビン酸カルボキシラーゼ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_04_051/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009949 |
| http://nanbyodata.jp/ontology/nanbyo#3000514 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "429" xsd:string |
| dcterms:identifier | "3000514" xsd:string |
| hasExactSynonym | "Fumarase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_04_052_01.pdf |
| rdfs:label | "フマラーゼ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_04_052/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011730 |
| http://nanbyodata.jp/ontology/nanbyo#3000515 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "430" xsd:string |
| dcterms:identifier | "3000515" xsd:string |
| hasExactSynonym | "Succinyl-CoA ligase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_04_053_01.pdf |
| rdfs:label | "スクシニル-CoAリガーゼ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_04_053/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000516 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "431" xsd:string |
| dcterms:identifier | "3000516" xsd:string |
| hasExactSynonym | "Mitochondrial respiratory chain disorders" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_04_054_01.pdf |
| rdfs:label | "ミトコンドリア呼吸鎖複合体欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_04_054/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000517 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "432" xsd:string |
| dcterms:identifier | "3000517" xsd:string |
| hasExactSynonym | "Mitochondrial DNA depletion syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_04_055_01.pdf |
| rdfs:label | "ミトコンドリアDNA枯渇症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_04_055/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018158 |
| http://nanbyodata.jp/ontology/nanbyo#3000518 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "433" xsd:string |
| dcterms:identifier | "3000518" xsd:string |
| hasExactSynonym | "Diseases due to mitochondrial DNA mutation" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_04_056_01.pdf |
| rdfs:label | "ミトコンドリアDNA突然変異" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_04_056/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000519 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "433" xsd:string |
| dcterms:identifier | "3000519" xsd:string |
| hasExactSynonym | "mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes)" @en |
| hasExactSynonym | "ミトコンドリア脳筋症" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_04_056_01.pdf |
| rdfs:label | "MELAS" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_04_056/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000518 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010789 |
| http://nanbyodata.jp/ontology/nanbyo#3000520 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "433" xsd:string |
| dcterms:identifier | "3000520" xsd:string |
| hasExactSynonym | "Myoclonus epilepsy associated with ragged-red fibers" @en |
| hasExactSynonym | "ミトコンドリア脳筋症" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_04_056_01.pdf |
| rdfs:label | "MERRF" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_04_056/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000518 |
| http://nanbyodata.jp/ontology/nanbyo#3000521 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "433" xsd:string |
| dcterms:identifier | "3000521" xsd:string |
| hasExactSynonym | "Leigh disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_04_056_01.pdf |
| rdfs:label | "リー症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_04_056/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000518 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009723 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018859 |
| http://nanbyodata.jp/ontology/nanbyo#3000522 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "434" xsd:string |
| dcterms:identifier | "3000522" xsd:string |
| hasExactSynonym | "Diseases due to mitochondrial DNA deletion" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_04_057_01.pdf |
| rdfs:label | "ミトコンドリアDNA欠失" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_04_057/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000523 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "434" xsd:string |
| dcterms:identifier | "3000523" xsd:string |
| hasExactSynonym | "Kearns-Sayre syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_04_057_01.pdf |
| rdfs:label | "カーンズ・セイヤー症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_04_057/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000522 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010787 |
| http://nanbyodata.jp/ontology/nanbyo#3000524 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "435" xsd:string |
| dcterms:identifier | "3000524" xsd:string |
| hasExactSynonym | "Other mitochondrial diseases" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_04_058_01.pdf |
| rdfs:label | "50から57までに掲げるもののほか、ミトコンドリア病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_04_058/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000525 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "436" xsd:string |
| dcterms:identifier | "3000525" xsd:string |
| hasExactSynonym | "HFI" @en |
| hasExactSynonym | "Hereditary fructose intolerance" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_05_059_01.pdf |
| rdfs:label | "遺伝性フルクトース不耐症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_05_059/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009249 |
| http://nanbyodata.jp/ontology/nanbyo#3000526 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "437" xsd:string |
| dcterms:identifier | "3000526" xsd:string |
| hasExactSynonym | "Galactose-1-phosphate uridyltransferase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_05_060_01.pdf |
| rdfs:label | "ガラクトース-1-リン酸ウリジルトランスフェラーゼ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_05_060/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009258 |
| http://nanbyodata.jp/ontology/nanbyo#3000527 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "438" xsd:string |
| dcterms:identifier | "3000527" xsd:string |
| hasExactSynonym | "Galactokinase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_05_061_01.pdf |
| rdfs:label | "ガラクトキナーゼ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_05_061/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009255 |
| http://nanbyodata.jp/ontology/nanbyo#3000528 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "439" xsd:string |
| dcterms:identifier | "3000528" xsd:string |
| hasExactSynonym | "UDP-galactose-4-epimerase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_05_062_01.pdf |
| rdfs:label | "ウリジル二リン酸ガラクトース-4-エピメラーゼ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_05_062/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009257 |
| http://nanbyodata.jp/ontology/nanbyo#3000529 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "440" xsd:string |
| dcterms:identifier | "3000529" xsd:string |
| hasExactSynonym | "Fructose-1,6-bisphosphatase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_05_063_01.pdf |
| rdfs:label | "フルクトース-1,6-ビスホスファターゼ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_05_063/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009251 |
| http://nanbyodata.jp/ontology/nanbyo#3000530 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "441" xsd:string |
| dcterms:identifier | "3000530" xsd:string |
| hasExactSynonym | "Phosphoenolpyruvate carboxykinase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_05_064_01.pdf |
| rdfs:label | "ホスホエノールピルビン酸カルボキシキナーゼ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_05_064/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009866 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017320 |
| http://nanbyodata.jp/ontology/nanbyo#3000531 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "442" xsd:string |
| dcterms:identifier | "3000531" xsd:string |
| hasExactSynonym | "Glycogen synthase deficiency" @en |
| hasExactSynonym | "糖原病0型" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_05_065_01.pdf |
| rdfs:label | "グリコーゲン合成酵素欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_05_065/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009414 |
| http://nanbyodata.jp/ontology/nanbyo#3000532 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "443" xsd:string |
| dcterms:identifier | "3000532" xsd:string |
| hasExactSynonym | "Glycogen storage disease type I" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_05_066_01.pdf |
| rdfs:label | "糖原病Ⅰ型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_05_066/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002413 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009287 |
| http://nanbyodata.jp/ontology/nanbyo#3000533 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "444" xsd:string |
| dcterms:identifier | "3000533" xsd:string |
| hasExactSynonym | "Glycogen storage disease type III" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_05_067_01.pdf |
| rdfs:label | "糖原病Ⅲ型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_05_067/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009291 |
| http://nanbyodata.jp/ontology/nanbyo#3000534 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "445" xsd:string |
| dcterms:identifier | "3000534" xsd:string |
| hasExactSynonym | "Glycogen storage disease type IV" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_05_068_01.pdf |
| rdfs:label | "糖原病Ⅳ型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_05_068/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009292 |
| http://nanbyodata.jp/ontology/nanbyo#3000535 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "446" xsd:string |
| dcterms:identifier | "3000535" xsd:string |
| hasExactSynonym | "Glycogen storage disease type V" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_05_069_01.pdf |
| rdfs:label | "糖原病Ⅴ型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_05_069/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009293 |
| http://nanbyodata.jp/ontology/nanbyo#3000536 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "447" xsd:string |
| dcterms:identifier | "3000536" xsd:string |
| hasExactSynonym | "Glycogen storage disease type VI" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_05_070_01.pdf |
| rdfs:label | "糖原病Ⅵ型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_05_070/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009294 |
| http://nanbyodata.jp/ontology/nanbyo#3000537 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "448" xsd:string |
| dcterms:identifier | "3000537" xsd:string |
| hasExactSynonym | "Glycogen storage disease type VII" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_05_071_01.pdf |
| rdfs:label | "糖原病Ⅶ型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_05_071/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009295 |
| http://nanbyodata.jp/ontology/nanbyo#3000538 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "449" xsd:string |
| dcterms:identifier | "3000538" xsd:string |
| hasExactSynonym | "Glycogen storage disease type IX" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_05_072_01.pdf |
| rdfs:label | "糖原病Ⅸ型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_05_072/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018251 |
| http://nanbyodata.jp/ontology/nanbyo#3000539 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "450" xsd:string |
| dcterms:identifier | "3000539" xsd:string |
| hasExactSynonym | "GLUT1欠損症" @ja |
| hasExactSynonym | "Glucose transporter 1 deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_05_073_01.pdf |
| rdfs:label | "グルコーストランスポーター1欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_05_073/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011724 |
| http://nanbyodata.jp/ontology/nanbyo#3000540 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "451" xsd:string |
| dcterms:identifier | "3000540" xsd:string |
| hasExactSynonym | "Other disorders of carbohydrate metabolism" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_05_074_01.pdf |
| rdfs:label | "59から73までに掲げるもののほか、糖質代謝異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_05_074/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000541 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "452" xsd:string |
| dcterms:identifier | "3000541" xsd:string |
| hasExactSynonym | "Mucopolysaccharidosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_06_075_01.pdf |
| rdfs:label | "ムコ多糖症Ⅰ型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_06_075/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019249 |
| http://nanbyodata.jp/ontology/nanbyo#3000542 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "453" xsd:string |
| dcterms:identifier | "3000542" xsd:string |
| hasExactSynonym | "Mucopolysaccharidosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_06_076_01.pdf |
| rdfs:label | "ムコ多糖症Ⅱ型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_06_076/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019249 |
| http://nanbyodata.jp/ontology/nanbyo#3000543 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "454" xsd:string |
| dcterms:identifier | "3000543" xsd:string |
| hasExactSynonym | "Mucopolysaccharidosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_06_077_01.pdf |
| rdfs:label | "ムコ多糖症Ⅲ型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_06_077/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019249 |
| http://nanbyodata.jp/ontology/nanbyo#3000544 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "455" xsd:string |
| dcterms:identifier | "3000544" xsd:string |
| hasExactSynonym | "Mucopolysaccharidosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_06_078_01.pdf |
| rdfs:label | "ムコ多糖症Ⅳ型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_06_078/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019249 |
| http://nanbyodata.jp/ontology/nanbyo#3000545 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "456" xsd:string |
| dcterms:identifier | "3000545" xsd:string |
| hasExactSynonym | "Mucopolysaccharidosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_06_079_01.pdf |
| rdfs:label | "ムコ多糖症Ⅵ型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_06_079/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019249 |
| http://nanbyodata.jp/ontology/nanbyo#3000546 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "457" xsd:string |
| dcterms:identifier | "3000546" xsd:string |
| hasExactSynonym | "Mucopolysaccharidosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_06_080_01.pdf |
| rdfs:label | "ムコ多糖症Ⅶ型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_06_080/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019249 |
| http://nanbyodata.jp/ontology/nanbyo#3000547 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "458" xsd:string |
| dcterms:identifier | "3000547" xsd:string |
| hasExactSynonym | "Fucosidosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_06_081_01.pdf |
| rdfs:label | "フコシドーシス" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_06_081/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009254 |
| http://nanbyodata.jp/ontology/nanbyo#3000548 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "459" xsd:string |
| dcterms:identifier | "3000548" xsd:string |
| hasExactSynonym | "alpha-Mannosidosis" @en |
| hasExactSynonym | "beta-Mannosidosis " @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_06_082_01.pdf |
| rdfs:label | "マンノシドーシス" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_06_082/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009561 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009562 |
| http://nanbyodata.jp/ontology/nanbyo#3000549 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "460" xsd:string |
| dcterms:identifier | "3000549" xsd:string |
| hasExactSynonym | "Aspartylglucosaminuria" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_06_083_01.pdf |
| rdfs:label | "アスパルチルグルコサミン尿症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_06_083/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008830 |
| http://nanbyodata.jp/ontology/nanbyo#3000550 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "461" xsd:string |
| dcterms:identifier | "3000550" xsd:string |
| hasExactSynonym | "Sialidosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_06_084_01.pdf |
| rdfs:label | "シアリドーシス" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_06_084/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009738 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017734 |
| http://nanbyodata.jp/ontology/nanbyo#3000551 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "462" xsd:string |
| dcterms:identifier | "3000551" xsd:string |
| hasExactSynonym | "Galactosialidosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_06_085_01.pdf |
| rdfs:label | "ガラクトシアリドーシス" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_06_085/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009737 |
| http://nanbyodata.jp/ontology/nanbyo#3000552 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "463" xsd:string |
| dcterms:identifier | "3000552" xsd:string |
| hasExactSynonym | "GM1-gangliosidosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_06_086_01.pdf |
| rdfs:label | "GM1-ガングリオシドーシス" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_06_086/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018149 |
| http://nanbyodata.jp/ontology/nanbyo#3000553 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "464" xsd:string |
| dcterms:identifier | "3000553" xsd:string |
| hasExactSynonym | "GM2-gangliosidosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_06_087_01.pdf |
| rdfs:label | "GM2-ガングリオシドーシス" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_06_087/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017720 |
| http://nanbyodata.jp/ontology/nanbyo#3000554 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "465" xsd:string |
| dcterms:identifier | "3000554" xsd:string |
| hasExactSynonym | "Metachromatic leukodystrophy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_06_088_01.pdf |
| rdfs:label | "異染性白質ジストロフィー" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_06_088/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009591 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018868 |
| http://nanbyodata.jp/ontology/nanbyo#3000555 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "466" xsd:string |
| dcterms:identifier | "3000555" xsd:string |
| hasExactSynonym | "Niemann-Pick disease" @en |
| hasExactSynonym | "Niemann-Pick病" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_06_089_01.pdf |
| rdfs:label | "ニーマン・ピック病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_06_089/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001982 |
| http://nanbyodata.jp/ontology/nanbyo#3000556 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "467" xsd:string |
| dcterms:identifier | "3000556" xsd:string |
| hasExactSynonym | "Gaucher disease" @en |
| hasExactSynonym | "Gaucher病" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_06_090_01.pdf |
| rdfs:label | "ゴーシェ病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_06_090/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018150 |
| http://nanbyodata.jp/ontology/nanbyo#3000557 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "468" xsd:string |
| dcterms:identifier | "3000557" xsd:string |
| hasExactSynonym | "Fabry disease" @en |
| hasExactSynonym | "Fabry病" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_06_091_01.pdf |
| rdfs:label | "ファブリー病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_06_091/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010526 |
| http://nanbyodata.jp/ontology/nanbyo#3000558 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "469" xsd:string |
| dcterms:identifier | "3000558" xsd:string |
| hasExactSynonym | "Krabbe disease" @en |
| hasExactSynonym | "Krabbe病" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_06_092_01.pdf |
| rdfs:label | "クラッベ病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_06_092/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009499 |
| http://nanbyodata.jp/ontology/nanbyo#3000559 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "470" xsd:string |
| dcterms:identifier | "3000559" xsd:string |
| hasExactSynonym | "Farber disease" @en |
| hasExactSynonym | "Farber病" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_06_093_01.pdf |
| rdfs:label | "ファーバー病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_06_093/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009218 |
| http://nanbyodata.jp/ontology/nanbyo#3000560 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "471" xsd:string |
| dcterms:identifier | "3000560" xsd:string |
| hasExactSynonym | "Multiple sulfatase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_06_094_01.pdf |
| rdfs:label | "マルチプルスルファターゼ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_06_094/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010088 |
| http://nanbyodata.jp/ontology/nanbyo#3000561 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "472" xsd:string |
| dcterms:identifier | "3000561" xsd:string |
| hasExactSynonym | "I-cell病" @ja |
| hasExactSynonym | "Mucolipidosis II" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_06_095_01.pdf |
| rdfs:label | "ムコリピドーシスⅡ型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_06_095/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009650 |
| http://nanbyodata.jp/ontology/nanbyo#3000562 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "473" xsd:string |
| dcterms:identifier | "3000562" xsd:string |
| hasExactSynonym | "Mucolipidosis III" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_06_096_01.pdf |
| rdfs:label | "ムコリピドーシスⅢ型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_06_096/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009651 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018931 |
| http://nanbyodata.jp/ontology/nanbyo#3000563 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "474" xsd:string |
| dcterms:identifier | "3000563" xsd:string |
| hasExactSynonym | "Pompe disease" @en |
| hasExactSynonym | "Pompe病" @ja |
| hasExactSynonym | "glycogen storage disease type II" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_06_097_01.pdf |
| rdfs:label | "ポンペ病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_06_097/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009290 |
| http://nanbyodata.jp/ontology/nanbyo#3000564 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "475" xsd:string |
| dcterms:identifier | "3000564" xsd:string |
| hasExactSynonym | "Acid lipase deficiency" @en |
| hasExactSynonym | "Wolman disease and cholesterol ester storage disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_06_098_01.pdf |
| rdfs:label | "酸性リパーゼ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_06_098/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019148 |
| http://nanbyodata.jp/ontology/nanbyo#3000565 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "476" xsd:string |
| dcterms:identifier | "3000565" xsd:string |
| hasExactSynonym | "Cystinosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_06_099_01.pdf |
| rdfs:label | "シスチン症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_06_099/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016239 |
| http://nanbyodata.jp/ontology/nanbyo#3000566 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "477" xsd:string |
| dcterms:identifier | "3000566" xsd:string |
| hasExactSynonym | "Free Sialic Acid Storage Disease" @en |
| hasExactSynonym | "Salla Disease" @en |
| hasExactSynonym | "infantile Free Sialic Acid Storage Disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_06_100_01.pdf |
| rdfs:label | "遊離シアル酸蓄積症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_06_100/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010027 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011449 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019366 |
| http://nanbyodata.jp/ontology/nanbyo#3000567 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "478" xsd:string |
| dcterms:identifier | "3000567" xsd:string |
| hasExactSynonym | "NCL" @en |
| hasExactSynonym | "Neuronal Ceroid Lipofuscinoses" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_06_101_01.pdf |
| rdfs:label | "神経セロイドリポフスチン症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_06_101/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016295 |
| http://nanbyodata.jp/ontology/nanbyo#3000568 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "479" xsd:string |
| dcterms:identifier | "3000568" xsd:string |
| hasExactSynonym | "Other lysosomal diseases" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_06_102_01.pdf |
| rdfs:label | "75から101までに掲げるもののほか、ライソゾーム病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_06_102/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000569 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "480" xsd:string |
| dcterms:identifier | "3000569" xsd:string |
| hasExactSynonym | "Peroxisome Biogenesis Disorders" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_07_103_01.pdf |
| rdfs:label | "ペルオキシソーム形成異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_07_103/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019234 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019609 |
| http://nanbyodata.jp/ontology/nanbyo#3000570 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "481" xsd:string |
| dcterms:identifier | "3000570" xsd:string |
| hasExactSynonym | "Adrenoleukodystrophy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_07_104_01.pdf |
| rdfs:label | "副腎白質ジストロフィー" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_07_104/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010247 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018544 |
| http://nanbyodata.jp/ontology/nanbyo#3000571 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "482" xsd:string |
| dcterms:identifier | "3000571" xsd:string |
| hasExactSynonym | "Refsum disease" @en |
| hasExactSynonym | "Refsum病" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_07_105_01.pdf |
| rdfs:label | "レフサム病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_07_105/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009958 |
| http://nanbyodata.jp/ontology/nanbyo#3000572 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "483" xsd:string |
| dcterms:identifier | "3000572" xsd:string |
| hasExactSynonym | "Other peroxisomal diseases" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_07_106_01.pdf |
| rdfs:label | "103から105までに掲げるもののほか、ペルオキシソーム病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_07_106/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000573 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "484" xsd:string |
| dcterms:identifier | "3000573" xsd:string |
| hasExactSynonym | "Wilson disease" @en |
| hasExactSynonym | "Wilson病" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_08_107_01.pdf |
| rdfs:label | "ウィルソン病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_08_107/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010200 |
| http://nanbyodata.jp/ontology/nanbyo#3000574 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "485" xsd:string |
| dcterms:identifier | "3000574" xsd:string |
| hasExactSynonym | "Menkes disease" @en |
| hasExactSynonym | "Menkes病" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_08_108_01.pdf |
| rdfs:label | "メンケス病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_08_108/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010651 |
| http://nanbyodata.jp/ontology/nanbyo#3000575 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "486" xsd:string |
| dcterms:identifier | "3000575" xsd:string |
| hasExactSynonym | "Occipital horn syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_08_109_01.pdf |
| rdfs:label | "オクシピタル・ホーン症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_08_109/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010572 |
| http://nanbyodata.jp/ontology/nanbyo#3000576 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "487" xsd:string |
| dcterms:identifier | "3000576" xsd:string |
| hasExactSynonym | "Aceruloplasminemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_08_110_01.pdf |
| rdfs:label | "無セルロプラスミン血症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_08_110/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011426 |
| http://nanbyodata.jp/ontology/nanbyo#3000577 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "488" xsd:string |
| dcterms:identifier | "3000577" xsd:string |
| hasExactSynonym | "sulfite oxidase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_08_111_01.pdf |
| rdfs:label | "亜硫酸酸化酵素欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_08_111/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010089 |
| http://nanbyodata.jp/ontology/nanbyo#3000578 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "489" xsd:string |
| dcterms:identifier | "3000578" xsd:string |
| hasExactSynonym | "Acrodermatitis enteropathica" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_08_112_01.pdf |
| rdfs:label | "先天性腸性肢端皮膚炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_08_112/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008713 |
| http://nanbyodata.jp/ontology/nanbyo#3000579 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "490" xsd:string |
| dcterms:identifier | "3000579" xsd:string |
| hasExactSynonym | "Other disorders of metal metabolism" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_08_113_01.pdf |
| rdfs:label | "107から112までに掲げるもののほか、金属代謝異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_08_113/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000580 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "491" xsd:string |
| dcterms:identifier | "3000580" xsd:string |
| hasExactSynonym | "HPRT" @en |
| hasExactSynonym | "Hypoxanthine-guanine phosphoribosyltransferase " @en |
| hasExactSynonym | "Hypoxanthine-guanine phosphoribosyltransferase deficiency" @en |
| hasExactSynonym | "Lesch-Nyhan syndrome" @en |
| hasExactSynonym | "レッシュ・ナイハン症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_09_114_01.pdf |
| rdfs:label | "ヒポキサンチングアニンホスホリボシルトランスフェラーゼ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_09_114/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010298 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016088 |
| http://nanbyodata.jp/ontology/nanbyo#3000581 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "492" xsd:string |
| dcterms:identifier | "3000581" xsd:string |
| hasExactSynonym | "Adenine phosphoribosyltransferase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_09_115_01.pdf |
| rdfs:label | "アデニンホスホリボシルトランスフェラーゼ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_09_115/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013869 |
| http://nanbyodata.jp/ontology/nanbyo#3000582 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "493" xsd:string |
| dcterms:identifier | "3000582" xsd:string |
| hasExactSynonym | "Xanthinuria" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_09_116_01.pdf |
| rdfs:label | "キサンチン尿症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_09_116/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000583 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "494" xsd:string |
| dcterms:identifier | "3000583" xsd:string |
| hasExactSynonym | "Genetic defects in urate transporters" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_09_117_01.pdf |
| rdfs:label | "尿酸トランスポーター異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_09_117/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000584 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "495" xsd:string |
| dcterms:identifier | "3000584" xsd:string |
| hasExactSynonym | "Orotic aciduria" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_09_118_01.pdf |
| rdfs:label | "オロト酸尿症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_09_118/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009797 |
| http://nanbyodata.jp/ontology/nanbyo#3000585 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "496" xsd:string |
| dcterms:identifier | "3000585" xsd:string |
| hasExactSynonym | "Other disorders of purine and pyrimidine metabolism" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_09_119_01.pdf |
| rdfs:label | "114から118までに掲げるもののほか、プリンピリミジン代謝異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_09_119/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000586 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "497" xsd:string |
| dcterms:identifier | "3000586" xsd:string |
| hasExactSynonym | "Hereditary folate malabsorption" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_10_120_01.pdf |
| rdfs:label | "先天性葉酸吸収不全症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_10_120/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009238 |
| http://nanbyodata.jp/ontology/nanbyo#3000587 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "498" xsd:string |
| dcterms:identifier | "3000587" xsd:string |
| hasExactSynonym | "Other disorders of vitamin metabolism" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_10_121_01.pdf |
| rdfs:label | "120に掲げるもののほか、ビタミン代謝異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_10_121/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000588 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "499" xsd:string |
| dcterms:identifier | "3000588" xsd:string |
| hasExactSynonym | "Tetrahydrobiopterin deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_11_122_01.pdf |
| rdfs:label | "ビオプテリン代謝異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_11_122/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000589 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "500" xsd:string |
| dcterms:identifier | "3000589" xsd:string |
| hasExactSynonym | "Tyrosine hydroxylase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_11_123_01.pdf |
| rdfs:label | "チロシン水酸化酵素欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_11_123/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0100064 |
| http://nanbyodata.jp/ontology/nanbyo#3000590 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "501" xsd:string |
| dcterms:identifier | "3000590" xsd:string |
| hasExactSynonym | "Aromatic L-amino acid decarboxylase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_11_124_01.pdf |
| rdfs:label | "芳香族L-アミノ酸脱炭酸酵素欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_11_124/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012084 |
| http://nanbyodata.jp/ontology/nanbyo#3000591 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "502" xsd:string |
| dcterms:identifier | "3000591" xsd:string |
| hasExactSynonym | "Dopamine beta hydroxylase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_11_125_01.pdf |
| rdfs:label | "ドーパミンβ-水酸化酵素欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_11_125/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009123 |
| http://nanbyodata.jp/ontology/nanbyo#3000592 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "503" xsd:string |
| dcterms:identifier | "3000592" xsd:string |
| hasExactSynonym | "Gamma-amino butyrate aminotransferase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_11_126_01.pdf |
| rdfs:label | "GABAアミノ基転移酵素欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_11_126/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000593 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "504" xsd:string |
| dcterms:identifier | "3000593" xsd:string |
| hasExactSynonym | "Succinic semialdehyde dehydrogenase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_11_127_01.pdf |
| rdfs:label | "コハク酸セミアルデヒド脱水素酵素欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_11_127/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010083 |
| http://nanbyodata.jp/ontology/nanbyo#3000594 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "505" xsd:string |
| dcterms:identifier | "3000594" xsd:string |
| hasExactSynonym | "Other disorder of neurotransmitter metabolism and transport" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_11_128_01.pdf |
| rdfs:label | "122から127までに掲げるもののほか、神経伝達物質異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_11_128/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000595 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "506" xsd:string |
| dcterms:identifier | "3000595" xsd:string |
| hasExactSynonym | "Primary hyperchylomicronaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_12_129_01.pdf |
| rdfs:label | "原発性高カイロミクロン血症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_12_129/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000596 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "507" xsd:string |
| dcterms:identifier | "3000596" xsd:string |
| hasExactSynonym | "Familial hypercholesterolaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_12_130_01.pdf |
| rdfs:label | "家族性高コレステロール血症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_12_130/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000597 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "508" xsd:string |
| dcterms:identifier | "3000597" xsd:string |
| hasExactSynonym | "Familial combined hyperlipidaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_12_131_01.pdf |
| rdfs:label | "家族性複合型高脂血症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_12_131/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000598 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "509" xsd:string |
| dcterms:identifier | "3000598" xsd:string |
| hasExactSynonym | "Abetalipoproteinemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_12_132_01.pdf |
| rdfs:label | "無β-リポタンパク血症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_12_132/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008692 |
| http://nanbyodata.jp/ontology/nanbyo#3000599 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "510" xsd:string |
| dcterms:identifier | "3000599" xsd:string |
| hasExactSynonym | "HDL deficiency" @en |
| hasExactSynonym | "HDL欠乏症" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_12_133_01.pdf |
| rdfs:label | "高比重リポタンパク欠乏症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_12_133/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000600 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "511" xsd:string |
| dcterms:identifier | "3000600" xsd:string |
| hasExactSynonym | "Other disorder of lipid metabolism" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_12_134_01.pdf |
| rdfs:label | "129から133までに掲げるもののほか、脂質代謝異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_12_134/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000601 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "512" xsd:string |
| dcterms:identifier | "3000601" xsd:string |
| hasExactSynonym | "Ehlers-Danlos syndrome" @en |
| hasExactSynonym | "Ehlers-Danlos症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_13_135_01.pdf |
| rdfs:label | "エーラス・ダンロス症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_13_135/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020066 |
| http://nanbyodata.jp/ontology/nanbyo#3000602 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "513" xsd:string |
| dcterms:identifier | "3000602" xsd:string |
| hasExactSynonym | "Lipoid proteinosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_13_136_01.pdf |
| rdfs:label | "リポイドタンパク症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_13_136/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009530 |
| http://nanbyodata.jp/ontology/nanbyo#3000603 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "514" xsd:string |
| dcterms:identifier | "3000603" xsd:string |
| hasExactSynonym | "Other connective tissue disorder" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_13_137_01.pdf |
| rdfs:label | "135及び136に掲げるもののほか、結合組織異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_13_137/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000604 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "515" xsd:string |
| dcterms:identifier | "3000604" xsd:string |
| hasExactSynonym | "porphyria" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_14_138_01.pdf |
| rdfs:label | "先天性ポルフィリン症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_14_138/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019142 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0037939 |
| http://nanbyodata.jp/ontology/nanbyo#3000605 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "516" xsd:string |
| dcterms:identifier | "3000605" xsd:string |
| hasExactSynonym | "Alpha-1-antitrypsin deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_08_15_139_01.pdf |
| rdfs:label | "α1-アンチトリプシン欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/08_15_139/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013282 |
| http://nanbyodata.jp/ontology/nanbyo#3000606 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "517" xsd:string |
| dcterms:identifier | "3000606" xsd:string |
| hasExactSynonym | "Megaloblastic anaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_01_001_01.pdf |
| rdfs:label | "巨赤芽球性貧血" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_01_001/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000607 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "518" xsd:string |
| dcterms:identifier | "3000607" xsd:string |
| hasExactSynonym | "acquired pure red cell aplasia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_02_002_01.pdf |
| rdfs:label | "後天性赤芽球癆" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_02_002/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020338 |
| http://nanbyodata.jp/ontology/nanbyo#3000608 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "519" xsd:string |
| dcterms:identifier | "3000608" xsd:string |
| hasExactSynonym | "Diamond-Blackfan anaemia" @en |
| hasExactSynonym | "congenital red cell aplasia" @en |
| hasExactSynonym | "ダイアモンド・ブラックファン貧血" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_02_003_01.pdf |
| rdfs:label | "先天性赤芽球癆" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_02_003/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000609 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "520" xsd:string |
| dcterms:identifier | "3000609" xsd:string |
| hasExactSynonym | "CDA" @en |
| hasExactSynonym | "congenital dyserythropoietic anaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_03_004_01.pdf |
| rdfs:label | "先天性赤血球形成異常性貧血" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_03_004/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011855 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019403 |
| http://nanbyodata.jp/ontology/nanbyo#3000610 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "521" xsd:string |
| dcterms:identifier | "3000610" xsd:string |
| hasExactSynonym | "sideroblastic anaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_04_005_01.pdf |
| rdfs:label | "鉄芽球性貧血" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_04_005/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000611 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "522" xsd:string |
| dcterms:identifier | "3000611" xsd:string |
| hasExactSynonym | "congenital atransferrinemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_05_006_01.pdf |
| rdfs:label | "無トランスフェリン血症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_05_006/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008846 |
| http://nanbyodata.jp/ontology/nanbyo#3000612 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "523" xsd:string |
| dcterms:identifier | "3000612" xsd:string |
| hasExactSynonym | "CAD" @en |
| hasExactSynonym | "cold agglutinin disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_06_007_01.pdf |
| rdfs:label | "寒冷凝集素症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_06_007/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005010 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018922 |
| http://nanbyodata.jp/ontology/nanbyo#3000613 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "524" xsd:string |
| dcterms:identifier | "3000613" xsd:string |
| hasExactSynonym | "PCH" @en |
| hasExactSynonym | "paroxysmal cold haemoglobinuria" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_06_008_01.pdf |
| rdfs:label | "発作性寒冷ヘモグロビン尿症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_06_008/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019533 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020135 |
| http://nanbyodata.jp/ontology/nanbyo#3000614 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "525" xsd:string |
| dcterms:identifier | "3000614" xsd:string |
| hasExactSynonym | "AIHA" @en |
| hasExactSynonym | "autoimmune haemolytic anaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_06_009_01.pdf |
| rdfs:label | "7及び8に掲げるもののほか、自己免疫性溶血性貧血" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_06_009/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020108 |
| http://nanbyodata.jp/ontology/nanbyo#3000615 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "526" xsd:string |
| dcterms:identifier | "3000615" xsd:string |
| hasExactSynonym | "PNH" @en |
| hasExactSynonym | "paroxysmal nocturnal haemoglobinuria" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_07_010_01.pdf |
| rdfs:label | "発作性夜間ヘモグロビン尿症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_07_010/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018641 |
| http://nanbyodata.jp/ontology/nanbyo#3000616 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "527" xsd:string |
| dcterms:identifier | "3000616" xsd:string |
| hasExactSynonym | "HS" @en |
| hasExactSynonym | "hereditary spherocytosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_08_011_01.pdf |
| rdfs:label | "遺伝性球状赤血球症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_08_011/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019350 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019395 |
| http://nanbyodata.jp/ontology/nanbyo#3000617 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "528" xsd:string |
| dcterms:identifier | "3000617" xsd:string |
| hasExactSynonym | "Hereditary stomatocytosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_08_012_01.pdf |
| rdfs:label | "口唇赤血球症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_08_012/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020102 |
| http://nanbyodata.jp/ontology/nanbyo#3000619 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "530" xsd:string |
| dcterms:identifier | "3000619" xsd:string |
| hasExactSynonym | "Unstable haemoglobin disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_08_014_01.pdf |
| rdfs:label | "不安定ヘモグロビン症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_08_014/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000620 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "531" xsd:string |
| dcterms:identifier | "3000620" xsd:string |
| hasExactSynonym | "thalassaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_08_015_01.pdf |
| rdfs:label | "サラセミア" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_08_015/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000621 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "532" xsd:string |
| dcterms:identifier | "3000621" xsd:string |
| hasExactSynonym | "Glucose-6-phosphate dehydrogenase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_08_016_01.pdf |
| rdfs:label | "グルコース-6-リン酸脱水素酵素欠乏症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_08_016/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005775 |
| http://nanbyodata.jp/ontology/nanbyo#3000622 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "533" xsd:string |
| dcterms:identifier | "3000622" xsd:string |
| hasExactSynonym | "Hemolytic anaemia due to red cell pyruvate kinase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_08_017_01.pdf |
| rdfs:label | "ピルビン酸キナーゼ欠乏性貧血" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_08_017/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000623 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "534" xsd:string |
| dcterms:identifier | "3000623" xsd:string |
| hasExactSynonym | "Other hereditary haemolytic anaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_08_018_01.pdf |
| rdfs:label | "11から17までに掲げるもののほか、遺伝性溶血性貧血" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_08_018/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000624 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "534" xsd:string |
| dcterms:identifier | "3000624" xsd:string |
| hasExactSynonym | "Hereditary elliptocytosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_08_018_01.pdf |
| rdfs:label | "遺伝性楕円赤血球症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_08_018/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000623 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017319 |
| http://nanbyodata.jp/ontology/nanbyo#3000625 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "534" xsd:string |
| dcterms:identifier | "3000625" xsd:string |
| hasExactSynonym | "Hereditary pyropoikilocytosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_08_018_01.pdf |
| rdfs:label | "遺伝性熱変形赤血球症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_08_018/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000623 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009948 |
| http://nanbyodata.jp/ontology/nanbyo#3000626 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "534" xsd:string |
| dcterms:identifier | "3000626" xsd:string |
| hasExactSynonym | "Classic hereditary Xerocytosis" @en |
| hasExactSynonym | "古典的遺伝性乾燥赤血球症" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_08_018_01.pdf |
| rdfs:label | "Classic hereditary Xerocytosis" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_08_018/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000623 |
| http://nanbyodata.jp/ontology/nanbyo#3000627 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "534" xsd:string |
| dcterms:identifier | "3000627" xsd:string |
| hasExactSynonym | "Somatocytic Xerocytosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_08_018_01.pdf |
| rdfs:label | "Somatocytic Xerocytosis" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_08_018/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000623 |
| http://nanbyodata.jp/ontology/nanbyo#3000628 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "534" xsd:string |
| dcterms:identifier | "3000628" xsd:string |
| hasExactSynonym | "Xerocytosis with high phosphatiylcholine hemolytic anemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_08_018_01.pdf |
| rdfs:label | "Xerocytosis with high phosphatiylcholine hemolytic anemia" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_08_018/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000623 |
| http://nanbyodata.jp/ontology/nanbyo#3000629 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "534" xsd:string |
| dcterms:identifier | "3000629" xsd:string |
| hasExactSynonym | "Hemoglobin C disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_08_018_01.pdf |
| rdfs:label | "ヘモグロビンC症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_08_018/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000623 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016242 |
| http://nanbyodata.jp/ontology/nanbyo#3000630 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "535" xsd:string |
| dcterms:identifier | "3000630" xsd:string |
| hasExactSynonym | "haemolytic anaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_09_019_01.pdf |
| rdfs:label | "溶血性貧血" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_09_019/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000631 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "535" xsd:string |
| dcterms:identifier | "3000631" xsd:string |
| hasExactSynonym | "haemolytic anaemia due to hypersplenism" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_09_019_01.pdf |
| rdfs:label | "脾機能亢進症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_09_019/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000630 |
| http://nanbyodata.jp/ontology/nanbyo#3000632 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "536" xsd:string |
| dcterms:identifier | "3000632" xsd:string |
| hasExactSynonym | "MAHA" @en |
| hasExactSynonym | "microangiopathic haemolytic anaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_10_020_01.pdf |
| rdfs:label | "微小血管障害性溶血性貧血" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_10_020/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000635 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "536" xsd:string |
| dcterms:identifier | "3000635" xsd:string |
| hasExactSynonym | "" @en |
| hasExactSynonym | "SCT-TMA" @en |
| hasExactSynonym | "stem cell transplant-associated microangiopathy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_10_020_01.pdf |
| rdfs:label | "造血幹細胞移植後血栓性微小血管障害症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_10_020/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000632 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002254 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008840 |
| http://nanbyodata.jp/ontology/nanbyo#3000636 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "537" xsd:string |
| dcterms:identifier | "3000636" xsd:string |
| hasExactSynonym | "PV" @en |
| hasExactSynonym | "polycythaemia vera" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_11_021_01.pdf |
| rdfs:label | "真性多血症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_11_021/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009891 |
| http://nanbyodata.jp/ontology/nanbyo#3000637 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "538" xsd:string |
| dcterms:identifier | "3000637" xsd:string |
| hasExactSynonym | "familial polycythaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_12_022_01.pdf |
| rdfs:label | "家族性赤血球増加症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_12_022/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000638 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "539" xsd:string |
| dcterms:identifier | "3000638" xsd:string |
| hasExactSynonym | "immune thrombocytopenic purpura" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_13_023_01.pdf |
| rdfs:label | "免疫性血小板減少性紫斑病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_13_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008558 |
| http://nanbyodata.jp/ontology/nanbyo#3000639 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "540" xsd:string |
| dcterms:identifier | "3000639" xsd:string |
| hasExactSynonym | "thrombocytopenic purpura" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_13_024_01.pdf |
| rdfs:label | "23に掲げるもののほか、血小板減少性紫斑病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_13_024/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0043768 |
| http://nanbyodata.jp/ontology/nanbyo#3000640 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "540" xsd:string |
| dcterms:identifier | "3000640" xsd:string |
| hasExactSynonym | "neonatal alloimmune thrombocytopenia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_13_024_01.pdf |
| rdfs:label | "新生児同種免疫性血小板減少症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_13_024/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000639 |
| http://nanbyodata.jp/ontology/nanbyo#3000641 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "540" xsd:string |
| dcterms:identifier | "3000641" xsd:string |
| hasExactSynonym | "Heparin-induced thrombocytopenia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_13_024_01.pdf |
| rdfs:label | "へパリン起因性血小板減少症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_13_024/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000639 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018048 |
| http://nanbyodata.jp/ontology/nanbyo#3000642 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "541" xsd:string |
| dcterms:identifier | "3000642" xsd:string |
| hasExactSynonym | "thrombotic thrombocytopenic purpura" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_14_025_01.pdf |
| rdfs:label | "血栓性血小板減少性紫斑病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_14_025/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018896 |
| http://nanbyodata.jp/ontology/nanbyo#3000643 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "542" xsd:string |
| dcterms:identifier | "3000643" xsd:string |
| hasExactSynonym | "thrombocytopenia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_15_026_01.pdf |
| rdfs:label | "血小板減少症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_15_026/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002049 |
| http://nanbyodata.jp/ontology/nanbyo#3000644 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "543" xsd:string |
| dcterms:identifier | "3000644" xsd:string |
| hasExactSynonym | "CAMT" @en |
| hasExactSynonym | "Congenital amegakaryocytic thrombocytopenia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_16_027_01.pdf |
| rdfs:label | "先天性無巨核球性血小板減少症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_16_027/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011469 |
| http://nanbyodata.jp/ontology/nanbyo#3000645 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "544" xsd:string |
| dcterms:identifier | "3000645" xsd:string |
| hasExactSynonym | "Fanconi anaemia" @en |
| hasExactSynonym | "Fanconi貧血" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_16_028_01.pdf |
| rdfs:label | "ファンコニ貧血" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_16_028/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000646 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "545" xsd:string |
| dcterms:identifier | "3000646" xsd:string |
| hasExactSynonym | "cyclic thrombocytopenia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_17_029_01.pdf |
| rdfs:label | "周期性血小板減少症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_17_029/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008556 |
| http://nanbyodata.jp/ontology/nanbyo#3000647 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "546" xsd:string |
| dcterms:identifier | "3000647" xsd:string |
| hasExactSynonym | "May-Hegglin異常症" @ja |
| hasExactSynonym | "May‐Hegglin anomaly" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_18_030_01.pdf |
| rdfs:label | "メイ・ヘグリン異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_18_030/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007954 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015912 |
| http://nanbyodata.jp/ontology/nanbyo#3000648 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "548" xsd:string |
| dcterms:identifier | "3000648" xsd:string |
| hasExactSynonym | "essential thrombocythaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_20_031_01.pdf |
| rdfs:label | "本態性血小板血症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_20_031/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005029 |
| http://nanbyodata.jp/ontology/nanbyo#3000649 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "549" xsd:string |
| dcterms:identifier | "3000649" xsd:string |
| hasExactSynonym | "Bernard-Soulier syndrome" @en |
| hasExactSynonym | "Bernard-Soulier症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_21_032_01.pdf |
| rdfs:label | "ベルナール・スーリエ症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_21_032/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009276 |
| http://nanbyodata.jp/ontology/nanbyo#3000650 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "550" xsd:string |
| dcterms:identifier | "3000650" xsd:string |
| hasExactSynonym | "thrombasthenia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_21_033_01.pdf |
| rdfs:label | "血小板無力症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_21_033/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010119 |
| http://nanbyodata.jp/ontology/nanbyo#3000651 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "551" xsd:string |
| dcterms:identifier | "3000651" xsd:string |
| hasExactSynonym | "Platelet secretion defects" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_21_034_01.pdf |
| rdfs:label | "血小板放出機構異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_21_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000652 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "552" xsd:string |
| dcterms:identifier | "3000652" xsd:string |
| hasExactSynonym | "platelet dysfunction" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_21_035_01.pdf |
| rdfs:label | "33から35までに掲げるもののほか、血小板機能異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_21_035/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000653 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "552" xsd:string |
| dcterms:identifier | "3000653" xsd:string |
| hasExactSynonym | "Congenital thrombocytopenia with radio- ulnar synostosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_21_035_01.pdf |
| rdfs:label | "橈骨尺骨融合を伴う血小板減少症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_21_035/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000652 |
| http://nanbyodata.jp/ontology/nanbyo#3000654 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "552" xsd:string |
| dcterms:identifier | "3000654" xsd:string |
| hasExactSynonym | "TAR 症候群" @ja |
| hasExactSynonym | "Thrombocytopenia with absent radii" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_21_035_01.pdf |
| rdfs:label | "橈骨欠損を伴う血小板減少症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_21_035/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000652 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010121 |
| http://nanbyodata.jp/ontology/nanbyo#3000655 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "552" xsd:string |
| dcterms:identifier | "3000655" xsd:string |
| hasExactSynonym | "FPDMM" @en |
| hasExactSynonym | "Familial platelet disorder with propensity to myeloid." @en |
| hasExactSynonym | " Familial Platelet Disorder with Associated Myeloid Malignancy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_21_035_01.pdf |
| rdfs:label | "骨髄悪性腫瘍傾向を伴う家族性血小板減少症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_21_035/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000652 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011071 |
| http://nanbyodata.jp/ontology/nanbyo#3000656 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "552" xsd:string |
| dcterms:identifier | "3000656" xsd:string |
| hasExactSynonym | "Autosomal dominant thrombocytopenia, thrombocytopenia 2" @en |
| hasExactSynonym | "THC2 " @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_21_035_01.pdf |
| rdfs:label | "常染色体優性遺伝性血小板減少症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_21_035/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000652 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008555 |
| http://nanbyodata.jp/ontology/nanbyo#3000657 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "552" xsd:string |
| dcterms:identifier | "3000657" xsd:string |
| hasExactSynonym | "ITGA2B/ITGB3 mutations" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_21_035_01.pdf |
| rdfs:label | "GPIIb/IIIa異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_21_035/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000652 |
| http://nanbyodata.jp/ontology/nanbyo#3000658 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "552" xsd:string |
| dcterms:identifier | "3000658" xsd:string |
| hasExactSynonym | "ACTN1 mutations" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_21_035_01.pdf |
| rdfs:label | "αアクチニン1異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_21_035/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000652 |
| http://nanbyodata.jp/ontology/nanbyo#3000659 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "552" xsd:string |
| dcterms:identifier | "3000659" xsd:string |
| hasExactSynonym | "Paris-trousseau/Jacobsen syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_21_035_01.pdf |
| rdfs:label | "Paris-Trousseau/Jacobsen症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_21_035/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000652 |
| http://nanbyodata.jp/ontology/nanbyo#3000660 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "552" xsd:string |
| dcterms:identifier | "3000660" xsd:string |
| hasExactSynonym | "platelet dysfunction" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_21_035_01.pdf |
| rdfs:label | "β1 tubulin 異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_21_035/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000652 |
| http://nanbyodata.jp/ontology/nanbyo#3000661 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "552" xsd:string |
| dcterms:identifier | "3000661" xsd:string |
| hasExactSynonym | "platenet-type von willebrand disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_21_035_01.pdf |
| rdfs:label | "血小板型フォン・ビルブランド病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_21_035/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000652 |
| http://nanbyodata.jp/ontology/nanbyo#3000662 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "552" xsd:string |
| dcterms:identifier | "3000662" xsd:string |
| hasExactSynonym | "ADP receptor deficiencies" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_21_035_01.pdf |
| rdfs:label | "ADP受容体異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_21_035/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000652 |
| http://nanbyodata.jp/ontology/nanbyo#3000663 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "552" xsd:string |
| dcterms:identifier | "3000663" xsd:string |
| hasExactSynonym | "Abnormalities in platelet collagen receptors" @en |
| hasExactSynonym | "GPVI deficiency " @en |
| hasExactSynonym | "GPVI欠損症" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_21_035_01.pdf |
| rdfs:label | "コラーゲン受容体異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_21_035/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000652 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013623 |
| http://nanbyodata.jp/ontology/nanbyo#3000664 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "552" xsd:string |
| dcterms:identifier | "3000664" xsd:string |
| hasExactSynonym | "Scott syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_21_035_01.pdf |
| rdfs:label | "スコット症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_21_035/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000652 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009885 |
| http://nanbyodata.jp/ontology/nanbyo#3000665 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "553" xsd:string |
| dcterms:identifier | "3000665" xsd:string |
| hasExactSynonym | "afibrinogenaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_22_036_01.pdf |
| rdfs:label | "先天性フィブリノーゲン欠乏症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_22_036/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000666 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "554" xsd:string |
| dcterms:identifier | "3000666" xsd:string |
| hasExactSynonym | "hypoprothrombinaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_22_037_01.pdf |
| rdfs:label | "先天性プロトロンビン欠乏症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_22_037/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000667 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "555" xsd:string |
| dcterms:identifier | "3000667" xsd:string |
| hasExactSynonym | "factor V deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_22_038_01.pdf |
| rdfs:label | "第Ⅴ因子欠乏症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_22_038/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009210 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020586 |
| http://nanbyodata.jp/ontology/nanbyo#3000668 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "556" xsd:string |
| dcterms:identifier | "3000668" xsd:string |
| hasExactSynonym | "factor VII deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_22_039_01.pdf |
| rdfs:label | "第Ⅶ因子欠乏症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_22_039/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002244 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009211 |
| http://nanbyodata.jp/ontology/nanbyo#3000669 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "557" xsd:string |
| dcterms:identifier | "3000669" xsd:string |
| hasExactSynonym | "haemophilia A" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_22_040_01.pdf |
| rdfs:label | "血友病Ａ" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_22_040/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010602 |
| http://nanbyodata.jp/ontology/nanbyo#3000670 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "558" xsd:string |
| dcterms:identifier | "3000670" xsd:string |
| hasExactSynonym | "haemophilia B" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_22_041_01.pdf |
| rdfs:label | "血友病Ｂ" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_22_041/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000671 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "559" xsd:string |
| dcterms:identifier | "3000671" xsd:string |
| hasExactSynonym | "factor X deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_22_042_01.pdf |
| rdfs:label | "第Ⅹ因子欠乏症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_22_042/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002247 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009212 |
| http://nanbyodata.jp/ontology/nanbyo#3000672 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "560" xsd:string |
| dcterms:identifier | "3000672" xsd:string |
| hasExactSynonym | "factor XI deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_22_043_01.pdf |
| rdfs:label | "第Ⅺ因子欠乏症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_22_043/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012897 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020587 |
| http://nanbyodata.jp/ontology/nanbyo#3000673 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "561" xsd:string |
| dcterms:identifier | "3000673" xsd:string |
| hasExactSynonym | "factor XII deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_22_044_01.pdf |
| rdfs:label | "第Ⅻ因子欠乏症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_22_044/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009315 |
| http://nanbyodata.jp/ontology/nanbyo#3000674 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "562" xsd:string |
| dcterms:identifier | "3000674" xsd:string |
| hasExactSynonym | "factor XIII deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_22_045_01.pdf |
| rdfs:label | "第XIII因子欠乏症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_22_045/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002241 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018029 |
| http://nanbyodata.jp/ontology/nanbyo#3000675 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "563" xsd:string |
| dcterms:identifier | "3000675" xsd:string |
| hasExactSynonym | "VWD" @en |
| hasExactSynonym | "Von Willebrand disease" @en |
| hasExactSynonym | "von Willebrand病" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_22_046_01.pdf |
| rdfs:label | "フォンウィルブランド病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_22_046/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0024574 |
| http://nanbyodata.jp/ontology/nanbyo#3000676 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "564" xsd:string |
| dcterms:identifier | "3000676" xsd:string |
| hasExactSynonym | "Other inherited bleeding disorder" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_22_047_01.pdf |
| rdfs:label | "37から47までに掲げるもののほか、先天性血液凝固因子異常" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_22_047/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000677 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "564" xsd:string |
| dcterms:identifier | "3000677" xsd:string |
| hasExactSynonym | "congenital prekallikrein deficiency" @en |
| hasExactSynonym | "prekallikrein deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_22_047_01.pdf |
| rdfs:label | "先天性プレカリクレイン欠乏症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_22_047/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000676 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012901 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0044744 |
| http://nanbyodata.jp/ontology/nanbyo#3000678 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "564" xsd:string |
| dcterms:identifier | "3000678" xsd:string |
| hasExactSynonym | "High molecular weight kininogen deficiency" @en |
| hasExactSynonym | "congenital high molecular weight kininogen deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_22_047_01.pdf |
| rdfs:label | "先天性高分子キニノゲン欠乏症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_22_047/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000676 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009234 |
| http://nanbyodata.jp/ontology/nanbyo#3000679 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "564" xsd:string |
| dcterms:identifier | "3000679" xsd:string |
| hasExactSynonym | "Combined deficiency of coagulation factors V and VIII" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_22_047_01.pdf |
| rdfs:label | "先天性第V+VIII因子合併欠乏症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_22_047/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000676 |
| http://nanbyodata.jp/ontology/nanbyo#3000680 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "564" xsd:string |
| dcterms:identifier | "3000680" xsd:string |
| hasExactSynonym | "Alpha-2-plasmin inhibitor deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_22_047_01.pdf |
| rdfs:label | "先天性α2-プラスミンインヒビター欠乏症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_22_047/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000676 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009883 |
| http://nanbyodata.jp/ontology/nanbyo#3000681 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "564" xsd:string |
| dcterms:identifier | "3000681" xsd:string |
| hasExactSynonym | "Congenital Plasminogen Activator Inhibitor-1 Deficiency" @en |
| hasExactSynonym | "Plasminogen Activator Inhibitor-1 Deficiency " @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_22_047_01.pdf |
| rdfs:label | "先天性プラスミノゲンアクチベータインヒビター1欠乏症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_22_047/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000676 |
| http://nanbyodata.jp/ontology/nanbyo#3000682 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "565" xsd:string |
| dcterms:identifier | "3000682" xsd:string |
| hasExactSynonym | "heritable thrombophilia" @en |
| hasExactSynonym | "protein C deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_23_048_01.pdf |
| rdfs:label | "先天性プロテインC欠乏症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_23_048/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019145 |
| http://nanbyodata.jp/ontology/nanbyo#3000683 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "566" xsd:string |
| dcterms:identifier | "3000683" xsd:string |
| hasExactSynonym | "heritable thrombophilia" @en |
| hasExactSynonym | "protein S deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_24_049_01.pdf |
| rdfs:label | "先天性プロテインS欠乏症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_24_049/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002304 |
| http://nanbyodata.jp/ontology/nanbyo#3000684 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "567" xsd:string |
| dcterms:identifier | "3000684" xsd:string |
| hasExactSynonym | "antithrombin deficiency" @en |
| hasExactSynonym | "heritable thrombophilia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_25_050_01.pdf |
| rdfs:label | "先天性アンチトロンビン欠乏症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_25_050/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000685 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "569" xsd:string |
| dcterms:identifier | "3000685" xsd:string |
| hasExactSynonym | "myelofibrosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_27_051_01.pdf |
| rdfs:label | "骨髄線維症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_27_051/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009692 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0044903 |
| http://nanbyodata.jp/ontology/nanbyo#3000686 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "570" xsd:string |
| dcterms:identifier | "3000686" xsd:string |
| hasExactSynonym | "aplastic anaemia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_09_28_052_01.pdf |
| rdfs:label | "再生不良性貧血" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/09_28_052/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000687 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "571" xsd:string |
| dcterms:identifier | "3000687" xsd:string |
| hasExactSynonym | "X-SCID" @en |
| hasExactSynonym | "X-linked severe combined immunodeficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_01_001_01.pdf |
| rdfs:label | "X連鎖重症複合免疫不全症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_01_001/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010315 |
| http://nanbyodata.jp/ontology/nanbyo#3000688 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "572" xsd:string |
| dcterms:identifier | "3000688" xsd:string |
| hasExactSynonym | "reticular dysgenesis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_01_002_01.pdf |
| rdfs:label | "細網異形成症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_01_002/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009973 |
| http://nanbyodata.jp/ontology/nanbyo#3000689 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "573" xsd:string |
| dcterms:identifier | "3000689" xsd:string |
| hasExactSynonym | "ADA deficiency" @en |
| hasExactSynonym | "ADA欠損症" @ja |
| hasExactSynonym | "adenosine deaminase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_01_003_01.pdf |
| rdfs:label | "アデノシンデアミナーゼ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_01_003/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007064 |
| http://nanbyodata.jp/ontology/nanbyo#3000690 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "574" xsd:string |
| dcterms:identifier | "3000690" xsd:string |
| hasExactSynonym | "Omenn syndrome" @en |
| hasExactSynonym | "Omenn症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_01_004_01.pdf |
| rdfs:label | "オーメン症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_01_004/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011338 |
| http://nanbyodata.jp/ontology/nanbyo#3000691 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "575" xsd:string |
| dcterms:identifier | "3000691" xsd:string |
| hasExactSynonym | "purine nucleoside phosphorylase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_01_005_01.pdf |
| rdfs:label | "プリンヌクレオシドホスホリラーゼ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_01_005/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013171 |
| http://nanbyodata.jp/ontology/nanbyo#3000692 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "576" xsd:string |
| dcterms:identifier | "3000692" xsd:string |
| hasExactSynonym | "CD8 deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_01_006_01.pdf |
| rdfs:label | "CD8欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_01_006/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000693 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "577" xsd:string |
| dcterms:identifier | "3000693" xsd:string |
| hasExactSynonym | "ZAP-70 deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_01_007_01.pdf |
| rdfs:label | "ZAP-70欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_01_007/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010023 |
| http://nanbyodata.jp/ontology/nanbyo#3000694 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "578" xsd:string |
| dcterms:identifier | "3000694" xsd:string |
| hasExactSynonym | "major histocompatibility complex class I deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_01_008_01.pdf |
| rdfs:label | "MHCクラスⅠ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_01_008/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000695 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "579" xsd:string |
| dcterms:identifier | "3000695" xsd:string |
| hasExactSynonym | "major histocompatibility complex class II deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_01_009_01.pdf |
| rdfs:label | "MHCクラスⅡ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_01_009/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000696 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "580" xsd:string |
| dcterms:identifier | "3000696" xsd:string |
| hasExactSynonym | "Other combined immunodeficiencies" @en |
| hasExactSynonym | "combined immunodeficiencies" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_01_010_01.pdf |
| rdfs:label | "1から9までに掲げるもののほか、複合免疫不全症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_01_010/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000697 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "581" xsd:string |
| dcterms:identifier | "3000697" xsd:string |
| hasExactSynonym | "Wiskott-Aldrich syndrome" @en |
| hasExactSynonym | "Wiskott-Aldrich症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_02_011_01.pdf |
| rdfs:label | "ウィスコット・オルドリッチ症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_02_011/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010518 |
| http://nanbyodata.jp/ontology/nanbyo#3000698 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "582" xsd:string |
| dcterms:identifier | "3000698" xsd:string |
| hasExactSynonym | "ataxia telangiectasia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_02_012_01.pdf |
| rdfs:label | "毛細血管拡張性運動失調症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_02_012/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008840 |
| http://nanbyodata.jp/ontology/nanbyo#3000699 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "583" xsd:string |
| dcterms:identifier | "3000699" xsd:string |
| hasExactSynonym | "Nijmegen breakage syndrome" @en |
| hasExactSynonym | "Nijmegen染色体不安定症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_02_013_01.pdf |
| rdfs:label | "ナイミーヘン染色体不安定症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_02_013/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009623 |
| http://nanbyodata.jp/ontology/nanbyo#3000700 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "584" xsd:string |
| dcterms:identifier | "3000700" xsd:string |
| hasExactSynonym | "Bloom syndrome" @en |
| hasExactSynonym | "Bloom症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_02_014_01.pdf |
| rdfs:label | "ブルーム症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_02_014/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008876 |
| http://nanbyodata.jp/ontology/nanbyo#3000701 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "585" xsd:string |
| dcterms:identifier | "3000701" xsd:string |
| hasExactSynonym | "ICF syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_02_015_01.pdf |
| rdfs:label | "ICF症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_02_015/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000133 |
| http://nanbyodata.jp/ontology/nanbyo#3000702 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "586" xsd:string |
| dcterms:identifier | "3000702" xsd:string |
| hasExactSynonym | "PMS2 deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_02_016_01.pdf |
| rdfs:label | "PMS2異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_02_016/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000703 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "587" xsd:string |
| dcterms:identifier | "3000703" xsd:string |
| hasExactSynonym | "RIDDLE syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_02_017_01.pdf |
| rdfs:label | "RIDDLE症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_02_017/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012764 |
| http://nanbyodata.jp/ontology/nanbyo#3000704 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "588" xsd:string |
| dcterms:identifier | "3000704" xsd:string |
| hasExactSynonym | "Schimke syndrome" @en |
| hasExactSynonym | "Schimke症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_02_018_01.pdf |
| rdfs:label | "シムケ症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_02_018/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009458 |
| http://nanbyodata.jp/ontology/nanbyo#3000705 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "589" xsd:string |
| dcterms:identifier | "3000705" xsd:string |
| hasExactSynonym | "22q11.2 deletion syndrome" @en |
| hasExactSynonym | "22q11.2欠失症候群" @ja |
| hasExactSynonym | "DiGeorge syndrome" @en |
| hasExactSynonym | "thymus hypoplasia" @en |
| hasExactSynonym | "ディ・ジョージ症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_02_019_01.pdf |
| rdfs:label | "胸腺低形成" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_02_019/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008564 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018923 |
| http://nanbyodata.jp/ontology/nanbyo#3000706 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "590" xsd:string |
| dcterms:identifier | "3000706" xsd:string |
| hasExactSynonym | "hyper-IgE syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_02_020_01.pdf |
| rdfs:label | "高IgE症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_02_020/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018037 |
| http://nanbyodata.jp/ontology/nanbyo#3000707 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "591" xsd:string |
| dcterms:identifier | "3000707" xsd:string |
| hasExactSynonym | "hepatic venoocclusive immunodeficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_02_021_01.pdf |
| rdfs:label | "肝中心静脈閉鎖症を伴う免疫不全症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_02_021/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009338 |
| http://nanbyodata.jp/ontology/nanbyo#3000708 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "592" xsd:string |
| dcterms:identifier | "3000708" xsd:string |
| hasExactSynonym | "dyskeratosis congenita" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_02_022_01.pdf |
| rdfs:label | "先天性角化異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_02_022/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015780 |
| http://nanbyodata.jp/ontology/nanbyo#3000709 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "593" xsd:string |
| dcterms:identifier | "3000709" xsd:string |
| hasExactSynonym | "X-linked agammaglobulinaemia" @en |
| hasExactSynonym | "XLA" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_03_023_01.pdf |
| rdfs:label | "X連鎖無ガンマグロブリン血症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_03_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010421 |
| http://nanbyodata.jp/ontology/nanbyo#3000710 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "594" xsd:string |
| dcterms:identifier | "3000710" xsd:string |
| hasExactSynonym | "CVID" @en |
| hasExactSynonym | "common variable immunodeficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_03_024_01.pdf |
| rdfs:label | "分類不能型免疫不全症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_03_024/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012908 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015517 |
| http://nanbyodata.jp/ontology/nanbyo#3000711 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "595" xsd:string |
| dcterms:identifier | "3000711" xsd:string |
| hasExactSynonym | "Hyper-IgM syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_03_025_01.pdf |
| rdfs:label | "高IgM症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_03_025/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0003947 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010626 |
| http://nanbyodata.jp/ontology/nanbyo#3000712 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "596" xsd:string |
| dcterms:identifier | "3000712" xsd:string |
| hasExactSynonym | "Isolated IgG subclass deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_03_026_01.pdf |
| rdfs:label | "IgGサブクラス欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_03_026/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000713 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "597" xsd:string |
| dcterms:identifier | "3000713" xsd:string |
| hasExactSynonym | "Selective IgA deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_03_027_01.pdf |
| rdfs:label | "選択的IgA欠損" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_03_027/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001341 |
| http://nanbyodata.jp/ontology/nanbyo#3000714 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "598" xsd:string |
| dcterms:identifier | "3000714" xsd:string |
| hasExactSynonym | "Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_03_028_01.pdf |
| rdfs:label | "特異抗体産生不全症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_03_028/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000715 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "599" xsd:string |
| dcterms:identifier | "3000715" xsd:string |
| hasExactSynonym | "Transient hypogammaglobulinaemia of infancy with normal numbers of B cells" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_03_029_01.pdf |
| rdfs:label | "乳児一過性低ガンマグロブリン血症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_03_029/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000716 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "600" xsd:string |
| dcterms:identifier | "3000716" xsd:string |
| hasExactSynonym | "Other predominantly antibody deficiencies" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_03_030_01.pdf |
| rdfs:label | "23から29までに掲げるもののほか、液性免疫不全を主とする疾患" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_03_030/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000717 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "601" xsd:string |
| dcterms:identifier | "3000717" xsd:string |
| hasExactSynonym | "CHS" @en |
| hasExactSynonym | "Chediak-Higashi syndrome" @en |
| hasExactSynonym | "Chediak-Higashi症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_04_031_01.pdf |
| rdfs:label | "チェディアック・東症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_04_031/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008963 |
| http://nanbyodata.jp/ontology/nanbyo#3000718 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "602" xsd:string |
| dcterms:identifier | "3000718" xsd:string |
| hasExactSynonym | "X-linked lymphoproliferative syndrome" @en |
| hasExactSynonym | "XLP" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_04_032_01.pdf |
| rdfs:label | "X連鎖リンパ増殖症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_04_032/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010420 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010627 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0024551 |
| http://nanbyodata.jp/ontology/nanbyo#3000719 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "603" xsd:string |
| dcterms:identifier | "3000719" xsd:string |
| hasExactSynonym | "ALPS" @en |
| hasExactSynonym | "ALPS" @ja |
| hasExactSynonym | "autoimmune lymphoproliferative syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_04_033_01.pdf |
| rdfs:label | "自己免疫性リンパ増殖症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_04_033/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011158 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017979 |
| http://nanbyodata.jp/ontology/nanbyo#3000720 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "604" xsd:string |
| dcterms:identifier | "3000720" xsd:string |
| hasExactSynonym | "Other diseases of immune dysregulation" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf |
| rdfs:label | "31から33までに掲げるもののほか、免疫調節障害" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_04_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000721 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "604" xsd:string |
| dcterms:identifier | "3000721" xsd:string |
| hasExactSynonym | "FHL2" @en |
| hasExactSynonym | "familial hemophagocytic lymphohistiocytosis 2" @en |
| hasExactSynonym | "perforin deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf |
| rdfs:label | "パーフォリン欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_04_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000720 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011337 |
| http://nanbyodata.jp/ontology/nanbyo#3000722 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "604" xsd:string |
| dcterms:identifier | "3000722" xsd:string |
| hasExactSynonym | "FHL3" @en |
| hasExactSynonym | "familial hemophagocytic lymphohistiocytosis 3" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf |
| rdfs:label | "UNC13D/Munc13-4欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_04_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000720 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012146 |
| http://nanbyodata.jp/ontology/nanbyo#3000723 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "604" xsd:string |
| dcterms:identifier | "3000723" xsd:string |
| hasExactSynonym | "FHL4" @en |
| hasExactSynonym | "familial hemophagocytic lymphohistiocytosis 4" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf |
| rdfs:label | "Syntaxin11欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_04_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000720 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011336 |
| http://nanbyodata.jp/ontology/nanbyo#3000724 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "604" xsd:string |
| dcterms:identifier | "3000724" xsd:string |
| hasExactSynonym | "FHL5" @en |
| hasExactSynonym | "familial hemophagocytic lymphohistiocytosis 5" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf |
| rdfs:label | "STXBP2/Munc18-2欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_04_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000720 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013135 |
| http://nanbyodata.jp/ontology/nanbyo#3000725 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "604" xsd:string |
| dcterms:identifier | "3000725" xsd:string |
| hasExactSynonym | "Griscelli syndrome type 2" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf |
| rdfs:label | "Gricelli症候群2型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_04_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000720 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011872 |
| http://nanbyodata.jp/ontology/nanbyo#3000726 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "604" xsd:string |
| dcterms:identifier | "3000726" xsd:string |
| hasExactSynonym | "HPS-2" @en |
| hasExactSynonym | "Hermansky-Pudlak syndrome type 2" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf |
| rdfs:label | "Hermansky-Pudlak症候群2型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_04_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000720 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011997 |
| http://nanbyodata.jp/ontology/nanbyo#3000727 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "604" xsd:string |
| dcterms:identifier | "3000727" xsd:string |
| hasExactSynonym | "IL-2-inducible T-cell kinase deficiency" @en |
| hasExactSynonym | "ITK deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf |
| rdfs:label | "ITK欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_04_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000720 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013081 |
| http://nanbyodata.jp/ontology/nanbyo#3000728 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "604" xsd:string |
| dcterms:identifier | "3000728" xsd:string |
| hasExactSynonym | "CD27 deficiency" @en |
| hasExactSynonym | "Combined immunodeficiency due to CD27 deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf |
| rdfs:label | "CD27欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_04_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000720 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0014054 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016536 |
| http://nanbyodata.jp/ontology/nanbyo#3000729 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "604" xsd:string |
| dcterms:identifier | "3000729" xsd:string |
| hasExactSynonym | "Immunodeficiency 41 with lymphoproliferation and autoimmunity" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf |
| rdfs:label | "CD25欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_04_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000720 |
| http://nanbyodata.jp/ontology/nanbyo#3000730 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "604" xsd:string |
| dcterms:identifier | "3000730" xsd:string |
| hasExactSynonym | "Growth hormone insensitivity with immunodeficiency" @en |
| hasExactSynonym | "STAT5b deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf |
| rdfs:label | "STAT5b欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_04_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000720 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009510 |
| http://nanbyodata.jp/ontology/nanbyo#3000731 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "604" xsd:string |
| dcterms:identifier | "3000731" xsd:string |
| hasExactSynonym | "APECED" @en |
| hasExactSynonym | "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf |
| rdfs:label | "自己免疫性多腺性内分泌不全症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_04_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000720 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009411 |
| http://nanbyodata.jp/ontology/nanbyo#3000732 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "604" xsd:string |
| dcterms:identifier | "3000732" xsd:string |
| hasExactSynonym | "ITCH E3 ubiquitin ligase deficiency" @en |
| hasExactSynonym | "Syndromic multisystem autoimmune disease due to Itch deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf |
| rdfs:label | "ITCH欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_04_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000720 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013245 |
| http://nanbyodata.jp/ontology/nanbyo#3000733 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "604" xsd:string |
| dcterms:identifier | "3000733" xsd:string |
| hasExactSynonym | "ALPS2B" @en |
| hasExactSynonym | "Caspase-8 deficiency" @en |
| hasExactSynonym | "autoimmune lymphoproliferative syndrome type 2B" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf |
| rdfs:label | "カスペース8欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_04_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000720 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011804 |
| http://nanbyodata.jp/ontology/nanbyo#3000734 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "604" xsd:string |
| dcterms:identifier | "3000734" xsd:string |
| hasExactSynonym | "FADD-related immunodeficiency" @en |
| hasExactSynonym | "FADD deficiency" @en |
| hasExactSynonym | "Fas-associated death domain protein deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf |
| rdfs:label | "FADD欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_04_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000720 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013408 |
| http://nanbyodata.jp/ontology/nanbyo#3000735 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "604" xsd:string |
| dcterms:identifier | "3000735" xsd:string |
| hasExactSynonym | "CARD11 gain-of-function mutations" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf |
| rdfs:label | "CARD11機能獲得型変異" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_04_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000720 |
| http://nanbyodata.jp/ontology/nanbyo#3000736 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "604" xsd:string |
| dcterms:identifier | "3000736" xsd:string |
| hasExactSynonym | "ALPS3" @en |
| hasExactSynonym | "CVID9" @en |
| hasExactSynonym | "PKCδ deficiency" @en |
| hasExactSynonym | "PKCδ欠損症" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf |
| rdfs:label | "PRKCδ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_04_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000720 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0014253 |
| http://nanbyodata.jp/ontology/nanbyo#3000737 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "604" xsd:string |
| dcterms:identifier | "3000737" xsd:string |
| hasExactSynonym | "SPENCDI" @en |
| hasExactSynonym | "Spondylo enchondro-dysplasiawith immune dysregulation" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf |
| rdfs:label | "SPENCDI" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_04_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000720 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011939 |
| http://nanbyodata.jp/ontology/nanbyo#3000738 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "605" xsd:string |
| dcterms:identifier | "3000738" xsd:string |
| hasExactSynonym | "severe congenital neutropenia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_05_035_01.pdf |
| rdfs:label | "重症先天性好中球減少症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_05_035/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018542 |
| http://nanbyodata.jp/ontology/nanbyo#3000739 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "606" xsd:string |
| dcterms:identifier | "3000739" xsd:string |
| hasExactSynonym | "cyclic neutropenia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_05_036_01.pdf |
| rdfs:label | "周期性好中球減少症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_05_036/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008090 |
| http://nanbyodata.jp/ontology/nanbyo#3000740 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "607" xsd:string |
| dcterms:identifier | "3000740" xsd:string |
| hasExactSynonym | "Other congenital defects of neutrophil function" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_05_037_01.pdf |
| rdfs:label | "35及び36に掲げるもののほか、慢性の経過をたどる好中球減少症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_05_037/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000741 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "607" xsd:string |
| dcterms:identifier | "3000741" xsd:string |
| hasExactSynonym | "AIN " @en |
| hasExactSynonym | "autoimmune neutropenia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_05_037_01.pdf |
| rdfs:label | "自己免疫性好中球減少症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_05_037/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000740 |
| http://nanbyodata.jp/ontology/nanbyo#3000742 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "607" xsd:string |
| dcterms:identifier | "3000742" xsd:string |
| hasExactSynonym | "Clericuzio-type poikiloderma with neutropenia syndrome" @en |
| hasExactSynonym | "PN" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_05_037_01.pdf |
| rdfs:label | "好中球減少を伴うClericuzio型多形皮膚萎縮症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_05_037/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000740 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011405 |
| http://nanbyodata.jp/ontology/nanbyo#3000743 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "607" xsd:string |
| dcterms:identifier | "3000743" xsd:string |
| hasExactSynonym | "cohen syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_05_037_01.pdf |
| rdfs:label | "Cohen症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_05_037/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000740 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008999 |
| http://nanbyodata.jp/ontology/nanbyo#3000744 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "607" xsd:string |
| dcterms:identifier | "3000744" xsd:string |
| hasExactSynonym | "Bart syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_05_037_01.pdf |
| rdfs:label | "Barth症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_05_037/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000740 |
| http://nanbyodata.jp/ontology/nanbyo#3000745 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "607" xsd:string |
| dcterms:identifier | "3000745" xsd:string |
| hasExactSynonym | "P14 deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_05_037_01.pdf |
| rdfs:label | "P14欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_05_037/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000740 |
| http://nanbyodata.jp/ontology/nanbyo#3000746 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "607" xsd:string |
| dcterms:identifier | "3000746" xsd:string |
| hasExactSynonym | "X linked severe congenital neutropenia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_05_037_01.pdf |
| rdfs:label | "X連鎖好中球減少症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_05_037/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000740 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010294 |
| http://nanbyodata.jp/ontology/nanbyo#3000747 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "607" xsd:string |
| dcterms:identifier | "3000747" xsd:string |
| hasExactSynonym | "Glycogen storage disease type 1B" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_05_037_01.pdf |
| rdfs:label | "糖原病1b型" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_05_037/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000740 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009288 |
| http://nanbyodata.jp/ontology/nanbyo#3000748 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "608" xsd:string |
| dcterms:identifier | "3000748" xsd:string |
| hasExactSynonym | "LAD" @en |
| hasExactSynonym | "leukocyte adhesion deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_05_038_01.pdf |
| rdfs:label | "白血球接着不全症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_05_038/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007293 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017570 |
| http://nanbyodata.jp/ontology/nanbyo#3000749 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "609" xsd:string |
| dcterms:identifier | "3000749" xsd:string |
| hasExactSynonym | "SDS" @en |
| hasExactSynonym | "Shwachman-Diamond syndrome" @en |
| hasExactSynonym | "Shwachman-Diamond症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_05_039_01.pdf |
| rdfs:label | "シュワッハマン・ダイアモンド症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_05_039/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009833 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0044204 |
| http://nanbyodata.jp/ontology/nanbyo#3000750 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "610" xsd:string |
| dcterms:identifier | "3000750" xsd:string |
| hasExactSynonym | "CGD" @en |
| hasExactSynonym | "Chronic granulomatous disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_05_040_01.pdf |
| rdfs:label | "慢性肉芽腫症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_05_040/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010600 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018305 |
| http://nanbyodata.jp/ontology/nanbyo#3000751 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "611" xsd:string |
| dcterms:identifier | "3000751" xsd:string |
| hasExactSynonym | "myeloperoxidase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_05_041_01.pdf |
| rdfs:label | "ミエロペルオキシダーゼ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_05_041/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009694 |
| http://nanbyodata.jp/ontology/nanbyo#3000752 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "612" xsd:string |
| dcterms:identifier | "3000752" xsd:string |
| hasExactSynonym | "MSMD" @en |
| hasExactSynonym | "Mendelian susceptibility to mycobacterial disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_05_042_01.pdf |
| rdfs:label | "メンデル遺伝型マイコバクテリア易感染症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_05_042/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000753 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "613" xsd:string |
| dcterms:identifier | "3000753" xsd:string |
| hasExactSynonym | "Other congenital defects of phagocyte function" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_05_043_01.pdf |
| rdfs:label | "38から42までに掲げるもののほか、白血球機能異常" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_05_043/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000754 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "614" xsd:string |
| dcterms:identifier | "3000754" xsd:string |
| hasExactSynonym | "Anhidrotic ectodermal dysplasia with immunodeficiency" @en |
| hasExactSynonym | "EDA-ID" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_06_044_01.pdf |
| rdfs:label | "免疫不全を伴う無汗性外胚葉形成異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_06_044/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010293 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020740 |
| http://nanbyodata.jp/ontology/nanbyo#3000755 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "615" xsd:string |
| dcterms:identifier | "3000755" xsd:string |
| hasExactSynonym | "IRAK4 deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_06_045_01.pdf |
| rdfs:label | "IRAK4欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_06_045/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000756 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "616" xsd:string |
| dcterms:identifier | "3000756" xsd:string |
| hasExactSynonym | "MyD88 deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_06_046_01.pdf |
| rdfs:label | "MyD88欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_06_046/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000757 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "617" xsd:string |
| dcterms:identifier | "3000757" xsd:string |
| hasExactSynonym | "CMC" @en |
| hasExactSynonym | "chronic mucocutaneous candidiasis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_06_047_01.pdf |
| rdfs:label | "慢性皮膚粘膜カンジダ症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_06_047/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008094 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015279 |
| http://nanbyodata.jp/ontology/nanbyo#3000758 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "618" xsd:string |
| dcterms:identifier | "3000758" xsd:string |
| hasExactSynonym | "Other defects in innate immunity" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf |
| rdfs:label | "44から47までに掲げるもののほか、自然免疫異常" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_06_048/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000759 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "618" xsd:string |
| dcterms:identifier | "3000759" xsd:string |
| hasExactSynonym | "HOIL-1 deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf |
| rdfs:label | "HOIL1欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_06_048/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000758 |
| http://nanbyodata.jp/ontology/nanbyo#3000760 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "618" xsd:string |
| dcterms:identifier | "3000760" xsd:string |
| hasExactSynonym | " and myelokathexis" @en |
| hasExactSynonym | "WHIM syndrome" @en |
| hasExactSynonym | "Warts" @en |
| hasExactSynonym | " hypogammaglobulinemia" @en |
| hasExactSynonym | " infections" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf |
| rdfs:label | "WHIM症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_06_048/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000758 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008674 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015977 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016463 |
| http://nanbyodata.jp/ontology/nanbyo#3000761 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "618" xsd:string |
| dcterms:identifier | "3000761" xsd:string |
| hasExactSynonym | "Epidermodysplasia verruciformis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf |
| rdfs:label | "疣贅状表皮発育異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_06_048/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000758 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009176 |
| http://nanbyodata.jp/ontology/nanbyo#3000762 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "618" xsd:string |
| dcterms:identifier | "3000762" xsd:string |
| hasExactSynonym | "STAT2 deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf |
| rdfs:label | "STAT2欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_06_048/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000758 |
| http://nanbyodata.jp/ontology/nanbyo#3000763 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "618" xsd:string |
| dcterms:identifier | "3000763" xsd:string |
| hasExactSynonym | "MCM4 mutation" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf |
| rdfs:label | "MCM4遺伝子異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_06_048/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000758 |
| http://nanbyodata.jp/ontology/nanbyo#3000764 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "618" xsd:string |
| dcterms:identifier | "3000764" xsd:string |
| hasExactSynonym | "Herpes simplex encephalitis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf |
| rdfs:label | "単純ヘルペス脳炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_06_048/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000758 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012521 |
| http://nanbyodata.jp/ontology/nanbyo#3000765 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "618" xsd:string |
| dcterms:identifier | "3000765" xsd:string |
| hasExactSynonym | "CARD9 deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf |
| rdfs:label | "CARD9欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_06_048/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000758 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008905 |
| http://nanbyodata.jp/ontology/nanbyo#3000766 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "618" xsd:string |
| dcterms:identifier | "3000766" xsd:string |
| hasExactSynonym | "Trypanosomiasis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf |
| rdfs:label | "トリパノソーマ感染症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_06_048/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000758 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000940 |
| http://nanbyodata.jp/ontology/nanbyo#3000767 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "618" xsd:string |
| dcterms:identifier | "3000767" xsd:string |
| hasExactSynonym | "Isolated congenital asplenia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf |
| rdfs:label | "孤立性先天性無脾症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_06_048/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000758 |
| http://nanbyodata.jp/ontology/nanbyo#3000768 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "619" xsd:string |
| dcterms:identifier | "3000768" xsd:string |
| hasExactSynonym | "inherited deficiency of complement system" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf |
| rdfs:label | "先天性補体欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_07_049/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000769 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "619" xsd:string |
| dcterms:identifier | "3000769" xsd:string |
| hasExactSynonym | "C1q deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf |
| rdfs:label | "C1q 欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_07_049/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000768 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013343 |
| http://nanbyodata.jp/ontology/nanbyo#3000770 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "619" xsd:string |
| dcterms:identifier | "3000770" xsd:string |
| hasExactSynonym | "C1r deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf |
| rdfs:label | "C1r 欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_07_049/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000768 |
| http://nanbyodata.jp/ontology/nanbyo#3000771 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "619" xsd:string |
| dcterms:identifier | "3000771" xsd:string |
| hasExactSynonym | "C1s deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf |
| rdfs:label | "C1s 欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_07_049/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000768 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013419 |
| http://nanbyodata.jp/ontology/nanbyo#3000772 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "619" xsd:string |
| dcterms:identifier | "3000772" xsd:string |
| hasExactSynonym | "C4 deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf |
| rdfs:label | "C4 欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_07_049/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000768 |
| http://nanbyodata.jp/ontology/nanbyo#3000773 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "619" xsd:string |
| dcterms:identifier | "3000773" xsd:string |
| hasExactSynonym | "C2 deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf |
| rdfs:label | "C2 欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_07_049/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000768 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009006 |
| http://nanbyodata.jp/ontology/nanbyo#3000774 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "619" xsd:string |
| dcterms:identifier | "3000774" xsd:string |
| hasExactSynonym | "C3 deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf |
| rdfs:label | "C3 欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_07_049/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000768 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013417 |
| http://nanbyodata.jp/ontology/nanbyo#3000775 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "619" xsd:string |
| dcterms:identifier | "3000775" xsd:string |
| hasExactSynonym | "C5 deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf |
| rdfs:label | "C5 欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_07_049/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000768 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012295 |
| http://nanbyodata.jp/ontology/nanbyo#3000776 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "619" xsd:string |
| dcterms:identifier | "3000776" xsd:string |
| hasExactSynonym | "C6 deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf |
| rdfs:label | "C6 欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_07_049/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000768 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012908 |
| http://nanbyodata.jp/ontology/nanbyo#3000777 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "619" xsd:string |
| dcterms:identifier | "3000777" xsd:string |
| hasExactSynonym | "C7 deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf |
| rdfs:label | "C7 欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_07_049/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000768 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012412 |
| http://nanbyodata.jp/ontology/nanbyo#3000778 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "619" xsd:string |
| dcterms:identifier | "3000778" xsd:string |
| hasExactSynonym | "C8 deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf |
| rdfs:label | "C8 欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_07_049/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000768 |
| http://nanbyodata.jp/ontology/nanbyo#3000779 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "619" xsd:string |
| dcterms:identifier | "3000779" xsd:string |
| hasExactSynonym | "C9 deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf |
| rdfs:label | "C9 欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_07_049/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000768 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013445 |
| http://nanbyodata.jp/ontology/nanbyo#3000780 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "619" xsd:string |
| dcterms:identifier | "3000780" xsd:string |
| hasExactSynonym | "D因子欠損症" @ja |
| hasExactSynonym | "Factor D deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf |
| rdfs:label | "Factor D 欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_07_049/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000768 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013487 |
| http://nanbyodata.jp/ontology/nanbyo#3000781 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "619" xsd:string |
| dcterms:identifier | "3000781" xsd:string |
| hasExactSynonym | "Properdin deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf |
| rdfs:label | "Properdin 欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_07_049/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000768 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010713 |
| http://nanbyodata.jp/ontology/nanbyo#3000782 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "619" xsd:string |
| dcterms:identifier | "3000782" xsd:string |
| hasExactSynonym | "Factor I deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf |
| rdfs:label | "Factor I 欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_07_049/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000768 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008737 |
| http://nanbyodata.jp/ontology/nanbyo#3000783 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "619" xsd:string |
| dcterms:identifier | "3000783" xsd:string |
| hasExactSynonym | "Factor H deficiency" @en |
| hasExactSynonym | "H因子欠損症" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf |
| rdfs:label | "Factor H 欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_07_049/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000768 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012350 |
| http://nanbyodata.jp/ontology/nanbyo#3000784 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "619" xsd:string |
| dcterms:identifier | "3000784" xsd:string |
| hasExactSynonym | "3MC syndrome" @en |
| hasExactSynonym | "Malpuech-Michels-Mingarelli-Carnevale syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf |
| rdfs:label | "3MC 症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_07_049/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000768 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017398 |
| http://nanbyodata.jp/ontology/nanbyo#3000785 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "619" xsd:string |
| dcterms:identifier | "3000785" xsd:string |
| hasExactSynonym | "MASP2 deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf |
| rdfs:label | "MASP2 欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_07_049/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000768 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013423 |
| http://nanbyodata.jp/ontology/nanbyo#3000786 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "619" xsd:string |
| dcterms:identifier | "3000786" xsd:string |
| hasExactSynonym | "Ficolin 3 Deficiency" @en |
| hasExactSynonym | "Ficolin3欠損症" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf |
| rdfs:label | "Ficolin3 関連免疫不全症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_07_049/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000768 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013467 |
| http://nanbyodata.jp/ontology/nanbyo#3000787 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "620" xsd:string |
| dcterms:identifier | "3000787" xsd:string |
| hasExactSynonym | "C1 inhibitor deficiency" @en |
| hasExactSynonym | "C1インヒビター欠損症" @ja |
| hasExactSynonym | "hereditary angioedema" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_07_050_01.pdf |
| rdfs:label | "遺伝性血管性浮腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_07_050/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007361 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019623 |
| http://nanbyodata.jp/ontology/nanbyo#3000788 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "621" xsd:string |
| dcterms:identifier | "3000788" xsd:string |
| hasExactSynonym | "inherited deficiency of complement system" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_07_051_01.pdf |
| rdfs:label | "49及び50に掲げるもののほか、先天性補体欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_07_051/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000789 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "621" xsd:string |
| dcterms:identifier | "3000789" xsd:string |
| hasExactSynonym | "Factor B deficiency" @en |
| hasExactSynonym | "Factor B欠損症" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_07_051_01.pdf |
| rdfs:label | "B因子欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_07_051/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000788 |
| http://nanbyodata.jp/ontology/nanbyo#3000790 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "621" xsd:string |
| dcterms:identifier | "3000790" xsd:string |
| hasExactSynonym | "Factor I deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_07_051_01.pdf |
| rdfs:label | "Factor I欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_07_051/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000788 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008737 |
| http://nanbyodata.jp/ontology/nanbyo#3000791 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "621" xsd:string |
| dcterms:identifier | "3000791" xsd:string |
| hasExactSynonym | "complement factor H related protein 1 deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_07_051_01.pdf |
| rdfs:label | "Factor H-related protein欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_07_051/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000788 |
| http://nanbyodata.jp/ontology/nanbyo#3000792 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "621" xsd:string |
| dcterms:identifier | "3000792" xsd:string |
| hasExactSynonym | "Thrombomodulin deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_07_051_01.pdf |
| rdfs:label | "Thrombomodulin欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_07_051/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000788 |
| http://nanbyodata.jp/ontology/nanbyo#3000793 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "621" xsd:string |
| dcterms:identifier | "3000793" xsd:string |
| hasExactSynonym | "CD21 deficiency" @en |
| hasExactSynonym | "CD21欠損症" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_07_051_01.pdf |
| rdfs:label | "CR2欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_07_051/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000788 |
| http://nanbyodata.jp/ontology/nanbyo#3000794 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "621" xsd:string |
| dcterms:identifier | "3000794" xsd:string |
| hasExactSynonym | "CR3 deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_07_051_01.pdf |
| rdfs:label | "CR3欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_07_051/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000788 |
| http://nanbyodata.jp/ontology/nanbyo#3000795 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "621" xsd:string |
| dcterms:identifier | "3000795" xsd:string |
| hasExactSynonym | "CD46 deficiency" @en |
| hasExactSynonym | "Membrane cofactor protein 欠損症" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_07_051_01.pdf |
| rdfs:label | "CD46欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_07_051/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000788 |
| http://nanbyodata.jp/ontology/nanbyo#3000796 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "621" xsd:string |
| dcterms:identifier | "3000796" xsd:string |
| hasExactSynonym | "Membrane attack complex inhibitor欠損症" @ja |
| hasExactSynonym | "Primary CD59 deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_07_051_01.pdf |
| rdfs:label | "CD59欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_07_051/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000788 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012858 |
| http://nanbyodata.jp/ontology/nanbyo#3000797 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "622" xsd:string |
| dcterms:identifier | "3000797" xsd:string |
| hasExactSynonym | "hyper eosinophilic syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_08_052_01.pdf |
| rdfs:label | "好酸球増加症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_08_052/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015691 |
| http://nanbyodata.jp/ontology/nanbyo#3000798 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "623" xsd:string |
| dcterms:identifier | "3000798" xsd:string |
| hasExactSynonym | "CAEBV" @en |
| hasExactSynonym | "chronic active EB virus infection" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_09_053_01.pdf |
| rdfs:label | "慢性活動性EBウイルス感染症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_09_053/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009194 |
| http://nanbyodata.jp/ontology/nanbyo#3000799 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "624" xsd:string |
| dcterms:identifier | "3000799" xsd:string |
| hasExactSynonym | "acquired immune deficiency syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_10_054_01.pdf |
| rdfs:label | "後天性免疫不全症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_10_054/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012268 |
| http://nanbyodata.jp/ontology/nanbyo#3000800 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "625" xsd:string |
| dcterms:identifier | "3000800" xsd:string |
| hasExactSynonym | "Phenocopies of primary immunodeficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_10_055_01.pdf |
| rdfs:label | "後天的な免疫系障害による免疫不全症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_10_055/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000801 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "626" xsd:string |
| dcterms:identifier | "3000801" xsd:string |
| hasExactSynonym | "chronic GVHD" @en |
| hasExactSynonym | "chronic graft-versus-host disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_10_11_056_01.pdf |
| rdfs:label | "慢性移植片対宿主病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/10_11_056/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020547 |
| http://nanbyodata.jp/ontology/nanbyo#3000802 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "627" xsd:string |
| dcterms:identifier | "3000802" xsd:string |
| hasExactSynonym | "meningoencephalocele" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_01_001_01.pdf |
| rdfs:label | "髄膜脳瘤" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_01_001/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017079 |
| http://nanbyodata.jp/ontology/nanbyo#3000803 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "628" xsd:string |
| dcterms:identifier | "3000803" xsd:string |
| hasExactSynonym | "myelomeningocele" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_01_002_01.pdf |
| rdfs:label | "脊髄髄膜瘤" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_01_002/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017069 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019773 |
| http://nanbyodata.jp/ontology/nanbyo#3000804 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "629" xsd:string |
| dcterms:identifier | "3000804" xsd:string |
| hasExactSynonym | "Spinal lipoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_01_003_01.pdf |
| rdfs:label | "脊髄脂肪腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_01_003/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000805 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "630" xsd:string |
| dcterms:identifier | "3000805" xsd:string |
| hasExactSynonym | "sacrococcygeal teratoma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_02_004_01.pdf |
| rdfs:label | "仙尾部奇形腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_02_004/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0042727 |
| http://nanbyodata.jp/ontology/nanbyo#3000806 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "631" xsd:string |
| dcterms:identifier | "3000806" xsd:string |
| hasExactSynonym | "lissencephaly" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_03_005_01.pdf |
| rdfs:label | "滑脳症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_03_005/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018838 |
| http://nanbyodata.jp/ontology/nanbyo#3000807 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "632" xsd:string |
| dcterms:identifier | "3000807" xsd:string |
| hasExactSynonym | "schizencephaly" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_03_006_01.pdf |
| rdfs:label | "裂脳症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_03_006/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010011 |
| http://nanbyodata.jp/ontology/nanbyo#3000808 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "633" xsd:string |
| dcterms:identifier | "3000808" xsd:string |
| hasExactSynonym | "holoprosencephaly" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_03_007_01.pdf |
| rdfs:label | "全前脳胞症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_03_007/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016296 |
| http://nanbyodata.jp/ontology/nanbyo#3000809 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "634" xsd:string |
| dcterms:identifier | "3000809" xsd:string |
| hasExactSynonym | "De Morsier syndrome" @en |
| hasExactSynonym | "septo-optic dysplasia" @en |
| hasExactSynonym | "ドモルシア症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_03_008_01.pdf |
| rdfs:label | "中隔視神経形成異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_03_008/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008428 |
| http://nanbyodata.jp/ontology/nanbyo#3000810 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "635" xsd:string |
| dcterms:identifier | "3000810" xsd:string |
| hasExactSynonym | "Dandy-Walker syndrome" @en |
| hasExactSynonym | "Dandy-Walker症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_03_009_01.pdf |
| rdfs:label | "ダンディー・ウォーカー症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_03_009/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009072 |
| http://nanbyodata.jp/ontology/nanbyo#3000811 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "636" xsd:string |
| dcterms:identifier | "3000811" xsd:string |
| hasExactSynonym | "congenital hydrocephalus" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_03_010_01.pdf |
| rdfs:label | "先天性水頭症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_03_010/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016349 |
| http://nanbyodata.jp/ontology/nanbyo#3000812 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "637" xsd:string |
| dcterms:identifier | "3000812" xsd:string |
| hasExactSynonym | "Megalencephaly-capillary malformation syndrome" @en |
| hasExactSynonym | "Megalencephaly-capillary malformation-polymicrogyria" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_03_011_01.pdf |
| rdfs:label | "巨脳症－毛細血管奇形症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_03_011/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011240 |
| http://nanbyodata.jp/ontology/nanbyo#3000813 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "638" xsd:string |
| dcterms:identifier | "3000813" xsd:string |
| hasExactSynonym | "Joubert syndrome related disorders" @en |
| hasExactSynonym | "Joubert症候群関連疾患" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_04_012_01.pdf |
| rdfs:label | "ジュベール症候群関連疾患" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_04_012/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000814 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "639" xsd:string |
| dcterms:identifier | "3000814" xsd:string |
| hasExactSynonym | "Rett syndrome" @en |
| hasExactSynonym | "Rett症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_05_013_01.pdf |
| rdfs:label | "レット症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_05_013/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010726 |
| http://nanbyodata.jp/ontology/nanbyo#3000815 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "640" xsd:string |
| dcterms:identifier | "3000815" xsd:string |
| hasExactSynonym | "TSC" @en |
| hasExactSynonym | "tuberous sclerosis complex" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_06_014_01.pdf |
| rdfs:label | "結節性硬化症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_06_014/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001734 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008612 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019341 |
| http://nanbyodata.jp/ontology/nanbyo#3000816 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "641" xsd:string |
| dcterms:identifier | "3000816" xsd:string |
| hasExactSynonym | "neurocutaneous melanosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_06_015_01.pdf |
| rdfs:label | "神経皮膚黒色症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_06_015/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009578 |
| http://nanbyodata.jp/ontology/nanbyo#3000817 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "642" xsd:string |
| dcterms:identifier | "3000817" xsd:string |
| hasExactSynonym | "Gorlin syndrome" @en |
| hasExactSynonym | "Gorlin症候群" @ja |
| hasExactSynonym | "basal cell nevus syndrome" @en |
| hasExactSynonym | "基底細胞母斑症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_06_016_01.pdf |
| rdfs:label | "ゴーリン症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_06_016/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007187 |
| http://nanbyodata.jp/ontology/nanbyo#3000818 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "643" xsd:string |
| dcterms:identifier | "3000818" xsd:string |
| hasExactSynonym | "von Hippel-Lindau disease" @en |
| hasExactSynonym | "von Hippel-Lindau病" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_06_017_01.pdf |
| rdfs:label | "フォンヒッペル・リンドウ病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_06_017/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008667 |
| http://nanbyodata.jp/ontology/nanbyo#3000819 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "644" xsd:string |
| dcterms:identifier | "3000819" xsd:string |
| hasExactSynonym | "Sturge-Weber syndrome" @en |
| hasExactSynonym | "Sturge-Weber症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_06_018_01.pdf |
| rdfs:label | "スタージ・ウェーバー症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_06_018/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008501 |
| http://nanbyodata.jp/ontology/nanbyo#3000820 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "645" xsd:string |
| dcterms:identifier | "3000820" xsd:string |
| hasExactSynonym | "Werner syndrome" @en |
| hasExactSynonym | "Werner症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_07_019_01.pdf |
| rdfs:label | "ウェルナー症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_07_019/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010196 |
| http://nanbyodata.jp/ontology/nanbyo#3000821 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "646" xsd:string |
| dcterms:identifier | "3000821" xsd:string |
| hasExactSynonym | "Cockayne syndrome" @en |
| hasExactSynonym | "Cockayne症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_07_020_01.pdf |
| rdfs:label | "コケイン症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_07_020/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016006 |
| http://nanbyodata.jp/ontology/nanbyo#3000822 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "647" xsd:string |
| dcterms:identifier | "3000822" xsd:string |
| hasExactSynonym | "HGPS" @en |
| hasExactSynonym | "Hutchinson-Gilford progeria syndrome" @en |
| hasExactSynonym | "Hutchinson-Gilford syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_07_021_01.pdf |
| rdfs:label | "ハッチンソン・ギルフォード症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_07_021/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008310 |
| http://nanbyodata.jp/ontology/nanbyo#3000823 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "648" xsd:string |
| dcterms:identifier | "3000823" xsd:string |
| hasExactSynonym | "Canavan disease" @en |
| hasExactSynonym | "Canavan病" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_08_022_01.pdf |
| rdfs:label | "カナバン病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_08_022/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010079 |
| http://nanbyodata.jp/ontology/nanbyo#3000824 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "649" xsd:string |
| dcterms:identifier | "3000824" xsd:string |
| hasExactSynonym | "Alexander disease" @en |
| hasExactSynonym | "Alexander病" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_08_023_01.pdf |
| rdfs:label | "アレキサンダー病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_08_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008752 |
| http://nanbyodata.jp/ontology/nanbyo#3000825 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "650" xsd:string |
| dcterms:identifier | "3000825" xsd:string |
| hasExactSynonym | "congenital hypomyelinating leukodystrophy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_08_024_01.pdf |
| rdfs:label | "先天性大脳白質形成不全症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_08_024/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000826 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "651" xsd:string |
| dcterms:identifier | "3000826" xsd:string |
| hasExactSynonym | "megaloencephalic leukoencephalopathy with subcortical cysts" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_08_025_01.pdf |
| rdfs:label | "皮質下嚢胞をもつ大頭型白質脳症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_08_025/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000827 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "652" xsd:string |
| dcterms:identifier | "3000827" xsd:string |
| hasExactSynonym | "vanishing white matter disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_08_026_01.pdf |
| rdfs:label | "白質消失病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_08_026/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011380 |
| http://nanbyodata.jp/ontology/nanbyo#3000828 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "653" xsd:string |
| dcterms:identifier | "3000828" xsd:string |
| hasExactSynonym | "ATR-X syndrome, X-linked a-thalassemia/intellectual disability syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_09_027_01.pdf |
| rdfs:label | "ATR-X症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_09_027/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000829 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "654" xsd:string |
| dcterms:identifier | "3000829" xsd:string |
| hasExactSynonym | "Fragile X syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_10_028_01.pdf |
| rdfs:label | "脆弱Ｘ症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_10_028/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010383 |
| http://nanbyodata.jp/ontology/nanbyo#3000830 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "655" xsd:string |
| dcterms:identifier | "3000830" xsd:string |
| hasExactSynonym | "GPI欠損症" @ja |
| hasExactSynonym | "IGD" @en |
| hasExactSynonym | "Inherited GPI deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_11_029_01.pdf |
| rdfs:label | "先天性グリコシルホスファチジルイノシトール欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_11_029/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000831 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "656" xsd:string |
| dcterms:identifier | "3000831" xsd:string |
| hasExactSynonym | "Cerebral creatine deficiency syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_12_030_01.pdf |
| rdfs:label | "脳クレアチン欠乏症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_12_030/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000456 |
| http://nanbyodata.jp/ontology/nanbyo#3000832 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "657" xsd:string |
| dcterms:identifier | "3000832" xsd:string |
| hasExactSynonym | "Non-syndromic craniosynostosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_13_031_01.pdf |
| rdfs:label | "非症候性頭蓋骨縫合早期癒合症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_13_031/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015337 |
| http://nanbyodata.jp/ontology/nanbyo#3000833 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "658" xsd:string |
| dcterms:identifier | "3000833" xsd:string |
| hasExactSynonym | "Apert syndrome" @en |
| hasExactSynonym | "Apert症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_13_032_01.pdf |
| rdfs:label | "アペール 症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_13_032/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007041 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019796 |
| http://nanbyodata.jp/ontology/nanbyo#3000834 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "659" xsd:string |
| dcterms:identifier | "3000834" xsd:string |
| hasExactSynonym | "Crouzon disease" @en |
| hasExactSynonym | "Crouzon病" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_13_033_01.pdf |
| rdfs:label | "クルーゾン病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_13_033/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007405 |
| http://nanbyodata.jp/ontology/nanbyo#3000835 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "660" xsd:string |
| dcterms:identifier | "3000835" xsd:string |
| hasExactSynonym | "craniosynostosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_13_034_01.pdf |
| rdfs:label | "30から32までに掲げるもののほか、重度の頭蓋骨早期癒合症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_13_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015469 |
| http://nanbyodata.jp/ontology/nanbyo#3000836 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "660" xsd:string |
| dcterms:identifier | "3000836" xsd:string |
| hasExactSynonym | "Carpenter syndrome" @en |
| hasExactSynonym | "カーペンター症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_13_034_01.pdf |
| rdfs:label | "Carpenter症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_13_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000835 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008710 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019012 |
| http://nanbyodata.jp/ontology/nanbyo#3000837 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "660" xsd:string |
| dcterms:identifier | "3000837" xsd:string |
| hasExactSynonym | "Saethre-Chotzen syndrome" @en |
| hasExactSynonym | "ゼーツレ‐コッツェン症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_13_034_01.pdf |
| rdfs:label | "Seather-Chotzen症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_13_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000835 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007042 |
| http://nanbyodata.jp/ontology/nanbyo#3000840 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "662" xsd:string |
| dcterms:identifier | "3000840" xsd:string |
| hasExactSynonym | "Cerebral AVM" @en |
| hasExactSynonym | "Cerebral arteriovenous malformation" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_15_036_01.pdf |
| rdfs:label | "脳動静脈奇形" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_15_036/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007154 |
| http://nanbyodata.jp/ontology/nanbyo#3000841 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "663" xsd:string |
| dcterms:identifier | "3000841" xsd:string |
| hasExactSynonym | "Cavernous angioma of the brain and spinal cord" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_16_037_01.pdf |
| rdfs:label | "海綿状血管腫（脳脊髄）" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_16_037/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000842 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "664" xsd:string |
| dcterms:identifier | "3000842" xsd:string |
| hasExactSynonym | "spinal muscular atrophy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_17_038_01.pdf |
| rdfs:label | "脊髄性筋萎縮症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_17_038/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001516 |
| http://nanbyodata.jp/ontology/nanbyo#3000843 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "665" xsd:string |
| dcterms:identifier | "3000843" xsd:string |
| hasExactSynonym | "congenital insensitIVity to pain with anhidrosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_18_039_01.pdf |
| rdfs:label | "先天性無痛無汗症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_18_039/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000844 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "666" xsd:string |
| dcterms:identifier | "3000844" xsd:string |
| hasExactSynonym | "Charcot-Marie-Tooth disease" @en |
| hasExactSynonym | "Hereditary Motor and Sensory Neuropathy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_18_040_01.pdf |
| rdfs:label | "遺伝性運動感覚ニューロパチー" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_18_040/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002316 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015358 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015626 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018995 |
| http://nanbyodata.jp/ontology/nanbyo#3000845 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "667" xsd:string |
| dcterms:identifier | "3000845" xsd:string |
| hasExactSynonym | "Duchenne muscular dystrophy" @en |
| hasExactSynonym | "Duchenne型筋ジストロフィー" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_19_041_01.pdf |
| rdfs:label | "デュシェンヌ型筋ジストロフィー" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_19_041/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010679 |
| http://nanbyodata.jp/ontology/nanbyo#3000846 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "668" xsd:string |
| dcterms:identifier | "3000846" xsd:string |
| hasExactSynonym | "Emery-Dreifuss muscular dystrophy" @en |
| hasExactSynonym | "Emery-Dreifuss型筋ジストロフィー" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_19_042_01.pdf |
| rdfs:label | "エメリー・ドレイフス型筋ジストロフィー" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_19_042/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016830 |
| http://nanbyodata.jp/ontology/nanbyo#3000847 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "669" xsd:string |
| dcterms:identifier | "3000847" xsd:string |
| hasExactSynonym | "limb-girdle muscular dystrophy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_19_043_01.pdf |
| rdfs:label | "肢帯型筋ジストロフィー" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_19_043/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016971 |
| http://nanbyodata.jp/ontology/nanbyo#3000848 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "670" xsd:string |
| dcterms:identifier | "3000848" xsd:string |
| hasExactSynonym | "FSMD" @en |
| hasExactSynonym | "facio-scapulohumeral muscular dystrophy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_19_044_01.pdf |
| rdfs:label | "顔面肩甲上腕型筋ジストロフィー" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_19_044/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001347 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008030 |
| http://nanbyodata.jp/ontology/nanbyo#3000849 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "671" xsd:string |
| dcterms:identifier | "3000849" xsd:string |
| hasExactSynonym | "FCMD" @en |
| hasExactSynonym | "Fukuyama congenital muscular dystrophy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_19_045_01.pdf |
| rdfs:label | "福山型先天性筋ジストロフィー" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_19_045/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009678 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0023204 |
| http://nanbyodata.jp/ontology/nanbyo#3000850 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "672" xsd:string |
| dcterms:identifier | "3000850" xsd:string |
| hasExactSynonym | "merosin-deficient congenital muscular dystrophy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_19_046_01.pdf |
| rdfs:label | "メロシン欠損型先天性筋ジストロフィー" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_19_046/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011925 |
| http://nanbyodata.jp/ontology/nanbyo#3000851 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "673" xsd:string |
| dcterms:identifier | "3000851" xsd:string |
| hasExactSynonym | "Ullrich congenital muscular dystrophy" @en |
| hasExactSynonym | "Ullrich型先天性筋ジストロフィー" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_19_047_01.pdf |
| rdfs:label | "ウルリヒ型先天性筋ジストロフィー" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_19_047/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000355 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009681 |
| http://nanbyodata.jp/ontology/nanbyo#3000852 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "674" xsd:string |
| dcterms:identifier | "3000852" xsd:string |
| hasExactSynonym | "Muscular dystrophy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_19_048_01.pdf |
| rdfs:label | "38から44に掲げるもののほか、筋ジストロフィー" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_19_048/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020121 |
| http://nanbyodata.jp/ontology/nanbyo#3000853 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "674" xsd:string |
| dcterms:identifier | "3000853" xsd:string |
| hasExactSynonym | "Myotonic dystrophy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_19_048_01.pdf |
| rdfs:label | "筋硬直型筋ジストロフィー" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_19_048/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000852 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016107 |
| http://nanbyodata.jp/ontology/nanbyo#3000854 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "674" xsd:string |
| dcterms:identifier | "3000854" xsd:string |
| hasExactSynonym | "BMD" @en |
| hasExactSynonym | "Becker muscular dystrophy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_19_048_01.pdf |
| rdfs:label | "ベッカー型筋ジストロフィー" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_19_048/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000852 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007931 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010311 |
| http://nanbyodata.jp/ontology/nanbyo#3000855 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "674" xsd:string |
| dcterms:identifier | "3000855" xsd:string |
| hasExactSynonym | "L-CMD" @en |
| hasExactSynonym | "lamin related CMD" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_19_048_01.pdf |
| rdfs:label | "LMNA遺伝子変異型筋ジストロフィー" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_19_048/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000852 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013178 |
| http://nanbyodata.jp/ontology/nanbyo#3000856 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "675" xsd:string |
| dcterms:identifier | "3000856" xsd:string |
| hasExactSynonym | "Centronuclear myopathy" @en |
| hasExactSynonym | "myotubular myopathy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_20_049_01.pdf |
| rdfs:label | "ミオチュブラーミオパチー" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_20_049/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002921 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018947 |
| http://nanbyodata.jp/ontology/nanbyo#3000857 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "676" xsd:string |
| dcterms:identifier | "3000857" xsd:string |
| hasExactSynonym | "Congenital fiber-type disproportion myopathy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_20_050_01.pdf |
| rdfs:label | "先天性筋線維不均等症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_20_050/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009711 |
| http://nanbyodata.jp/ontology/nanbyo#3000858 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "677" xsd:string |
| dcterms:identifier | "3000858" xsd:string |
| hasExactSynonym | "nemaline myopathy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_20_051_01.pdf |
| rdfs:label | "ネマリンミオパチー" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_20_051/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018958 |
| http://nanbyodata.jp/ontology/nanbyo#3000859 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "678" xsd:string |
| dcterms:identifier | "3000859" xsd:string |
| hasExactSynonym | "central core disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_20_052_01.pdf |
| rdfs:label | "セントラルコア病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_20_052/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007294 |
| http://nanbyodata.jp/ontology/nanbyo#3000860 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "679" xsd:string |
| dcterms:identifier | "3000860" xsd:string |
| hasExactSynonym | "multicore disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_20_053_01.pdf |
| rdfs:label | "マルチコア病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_20_053/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018948 |
| http://nanbyodata.jp/ontology/nanbyo#3000861 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "680" xsd:string |
| dcterms:identifier | "3000861" xsd:string |
| hasExactSynonym | "mini core disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_20_054_01.pdf |
| rdfs:label | "ミニコア病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_20_054/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000862 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "681" xsd:string |
| dcterms:identifier | "3000862" xsd:string |
| hasExactSynonym | "congenital structural myopathy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_20_055_01.pdf |
| rdfs:label | "46から51までに掲げるもののほか、先天性ミオパチー" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_20_055/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002921 |
| http://nanbyodata.jp/ontology/nanbyo#3000863 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "681" xsd:string |
| dcterms:identifier | "3000863" xsd:string |
| hasExactSynonym | "CNMDU1 " @en |
| hasExactSynonym | "Congenital Neuromuscular Disease with Uniform Type 1 Fiber" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_20_055_01.pdf |
| rdfs:label | "先天性全タイプ１線維ミオパチー" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_20_055/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000862 |
| http://nanbyodata.jp/ontology/nanbyo#3000864 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "681" xsd:string |
| dcterms:identifier | "3000864" xsd:string |
| hasExactSynonym | "reducing body myopathy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_20_055_01.pdf |
| rdfs:label | "還元小体ミオパチー" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_20_055/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000862 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019948 |
| http://nanbyodata.jp/ontology/nanbyo#3000865 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "682" xsd:string |
| dcterms:identifier | "3000865" xsd:string |
| hasExactSynonym | "Schwartz-Jampel syndrome" @en |
| hasExactSynonym | "Schwartz-Jampel症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_21_056_01.pdf |
| rdfs:label | "シュワルツ・ヤンペル症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_21_056/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009717 |
| http://nanbyodata.jp/ontology/nanbyo#3000866 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "683" xsd:string |
| dcterms:identifier | "3000866" xsd:string |
| hasExactSynonym | "Dravet syndrome" @en |
| hasExactSynonym | "Severe myoclonic epilepsy in infancy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_22_057_01.pdf |
| rdfs:label | "乳児重症ミオクロニーてんかん" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_22_057/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011794 |
| http://nanbyodata.jp/ontology/nanbyo#3000867 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "684" xsd:string |
| dcterms:identifier | "3000867" xsd:string |
| hasExactSynonym | "West syndrome" @en |
| hasExactSynonym | "ウエスト症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_22_058_01.pdf |
| rdfs:label | "点頭てんかん" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_22_058/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018097 |
| http://nanbyodata.jp/ontology/nanbyo#3000868 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "685" xsd:string |
| dcterms:identifier | "3000868" xsd:string |
| hasExactSynonym | "Lennox-Gastaut syndrome" @en |
| hasExactSynonym | "Lennox-Gastaut症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_22_059_01.pdf |
| rdfs:label | "レノックス・ガストー症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_22_059/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016532 |
| http://nanbyodata.jp/ontology/nanbyo#3000869 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "686" xsd:string |
| dcterms:identifier | "3000869" xsd:string |
| hasExactSynonym | "Unverricht-Lundborg disease" @en |
| hasExactSynonym | "Unverricht-Lundborg病" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_23_060_01.pdf |
| rdfs:label | "ウンフェルリヒト・ルントボルク病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_23_060/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009698 |
| http://nanbyodata.jp/ontology/nanbyo#3000870 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "687" xsd:string |
| dcterms:identifier | "3000870" xsd:string |
| hasExactSynonym | "Lafora disease" @en |
| hasExactSynonym | "Lafora病" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_23_061_01.pdf |
| rdfs:label | "ラフォラ病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_23_061/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009697 |
| http://nanbyodata.jp/ontology/nanbyo#3000871 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "688" xsd:string |
| dcterms:identifier | "3000871" xsd:string |
| hasExactSynonym | "SCD" @en |
| hasExactSynonym | "spinocerebellar degeneration" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_24_062_01.pdf |
| rdfs:label | "脊髄小脳変性症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_24_062/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000359 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000437 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007374 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018484 |
| http://nanbyodata.jp/ontology/nanbyo#3000872 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "689" xsd:string |
| dcterms:identifier | "3000872" xsd:string |
| hasExactSynonym | "AHC" @en |
| hasExactSynonym | "alternating hemiplegia of childhood" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_25_063_01.pdf |
| rdfs:label | "小児交互性片麻痺" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_25_063/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010264 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016241 |
| http://nanbyodata.jp/ontology/nanbyo#3000873 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "690" xsd:string |
| dcterms:identifier | "3000873" xsd:string |
| hasExactSynonym | "dystonia musculorum deformans" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_26_064_01.pdf |
| rdfs:label | "変形性筋ジストニー" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_26_064/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000476 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007492 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0044811 |
| http://nanbyodata.jp/ontology/nanbyo#3000874 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "691" xsd:string |
| dcterms:identifier | "3000874" xsd:string |
| hasExactSynonym | "" @en |
| hasExactSynonym | "DRD" @en |
| hasExactSynonym | "Dopamine-responsive dystonia" @en |
| hasExactSynonym | "HPD" @en |
| hasExactSynonym | "Hereditary progressive dystonia with diurnal variation" @en |
| hasExactSynonym | "Segeawa syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_26_065_01.pdf |
| rdfs:label | "瀬川病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_26_065/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002254 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007495 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008840 |
| http://nanbyodata.jp/ontology/nanbyo#3000875 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "692" xsd:string |
| dcterms:identifier | "3000875" xsd:string |
| hasExactSynonym | "PKAN" @en |
| hasExactSynonym | "Pantothenate kinase-associated neurodegeneration" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_27_066_01.pdf |
| rdfs:label | "パントテン酸キナーゼ関連神経変性症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_27_066/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009319 |
| http://nanbyodata.jp/ontology/nanbyo#3000876 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "693" xsd:string |
| dcterms:identifier | "3000876" xsd:string |
| hasExactSynonym | "INAD" @en |
| hasExactSynonym | "infantile neuroaxonal dystrophy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_27_067_01.pdf |
| rdfs:label | "乳児神経軸索ジストロフィー" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_27_067/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009739 |
| http://nanbyodata.jp/ontology/nanbyo#3000877 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "694" xsd:string |
| dcterms:identifier | "3000877" xsd:string |
| hasExactSynonym | "IBSN" @en |
| hasExactSynonym | "infantile bilateral striatal necrosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_28_068_01.pdf |
| rdfs:label | "乳児両側線条体壊死" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_28_068/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010080 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015518 |
| http://nanbyodata.jp/ontology/nanbyo#3000878 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "695" xsd:string |
| dcterms:identifier | "3000878" xsd:string |
| hasExactSynonym | "Congenital herpes simplex virus infection" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_29_069_01.pdf |
| rdfs:label | "先天性ヘルペスウイルス感染症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_29_069/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017381 |
| http://nanbyodata.jp/ontology/nanbyo#3000879 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "696" xsd:string |
| dcterms:identifier | "3000879" xsd:string |
| hasExactSynonym | "congenital rubella syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_29_070_01.pdf |
| rdfs:label | "先天性風疹症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_29_070/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005713 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017361 |
| http://nanbyodata.jp/ontology/nanbyo#3000880 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "697" xsd:string |
| dcterms:identifier | "3000880" xsd:string |
| hasExactSynonym | "Congenital cytomegalovirus infection" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_29_071_01.pdf |
| rdfs:label | "先天性サイトメガロウイルス感染症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_29_071/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000881 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "698" xsd:string |
| dcterms:identifier | "3000881" xsd:string |
| hasExactSynonym | "Congenital toxoplasmosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_29_072_01.pdf |
| rdfs:label | "先天性トキソプラズマ感染症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_29_072/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005715 |
| http://nanbyodata.jp/ontology/nanbyo#3000882 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "699" xsd:string |
| dcterms:identifier | "3000882" xsd:string |
| hasExactSynonym | "AGS1" @en |
| hasExactSynonym | "Aicardi-Goutieres syndrome" @en |
| hasExactSynonym | "Aicardi-Goutieres症候群" @ja |
| hasExactSynonym | "Aicardi-Goutières syndrome" @en |
| hasExactSynonym | "TREX1欠損症" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_30_073_01.pdf |
| rdfs:label | "エカルディ・グティエール症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_30_073/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009165 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018866 |
| http://nanbyodata.jp/ontology/nanbyo#3000883 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "699" xsd:string |
| dcterms:identifier | "3000883" xsd:string |
| hasExactSynonym | "AGS2" @en |
| hasExactSynonym | "Aicardi-Goutieres syndrome 2" @en |
| hasExactSynonym | "Aicardi-Goutières syndrome 2" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_30_073_01.pdf |
| rdfs:label | "RNASEH2B欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_30_073/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000882 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012429 |
| http://nanbyodata.jp/ontology/nanbyo#3000884 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "699" xsd:string |
| dcterms:identifier | "3000884" xsd:string |
| hasExactSynonym | "AGS3" @en |
| hasExactSynonym | "Aicardi-Goutieres syndrome 3" @en |
| hasExactSynonym | "Aicardi-Goutières syndrome 3" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_30_073_01.pdf |
| rdfs:label | "RNASEH2C欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_30_073/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000882 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0012471 |
| http://nanbyodata.jp/ontology/nanbyo#3000885 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "699" xsd:string |
| dcterms:identifier | "3000885" xsd:string |
| hasExactSynonym | "AGS4a" @en |
| hasExactSynonym | "Aicardi-Goutieres syndrome 4a" @en |
| hasExactSynonym | "Aicardi-Goutières syndrome 4a" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_30_073_01.pdf |
| rdfs:label | "RNASEH2A欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_30_073/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000882 |
| http://nanbyodata.jp/ontology/nanbyo#3000886 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "699" xsd:string |
| dcterms:identifier | "3000886" xsd:string |
| hasExactSynonym | "AGS5" @en |
| hasExactSynonym | "Aicardi-Goutieres syndrome 5" @en |
| hasExactSynonym | "Aicardi-Goutières syndrome 5" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_30_073_01.pdf |
| rdfs:label | "SAMHD1欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_30_073/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000882 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013059 |
| http://nanbyodata.jp/ontology/nanbyo#3000887 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "699" xsd:string |
| dcterms:identifier | "3000887" xsd:string |
| hasExactSynonym | "AGS6" @en |
| hasExactSynonym | "Aicardi-Goutieres syndrome 6" @en |
| hasExactSynonym | "Aicardi-Goutières syndrome6" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_30_073_01.pdf |
| rdfs:label | "ADAR1欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_30_073/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000882 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0014007 |
| http://nanbyodata.jp/ontology/nanbyo#3000888 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "700" xsd:string |
| dcterms:identifier | "3000888" xsd:string |
| hasExactSynonym | "SSPE" @en |
| hasExactSynonym | "subacute sclerosing panencephalitis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_31_074_01.pdf |
| rdfs:label | "亜急性硬化性全脳炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_31_074/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009835 |
| http://nanbyodata.jp/ontology/nanbyo#3000889 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "701" xsd:string |
| dcterms:identifier | "3000889" xsd:string |
| hasExactSynonym | "Rasmussen encephalitis" @en |
| hasExactSynonym | "Rasmussen脳炎" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_32_075_01.pdf |
| rdfs:label | "ラスムッセン脳炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_32_075/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016019 |
| http://nanbyodata.jp/ontology/nanbyo#3000890 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "702" xsd:string |
| dcterms:identifier | "3000890" xsd:string |
| hasExactSynonym | "AESD" @en |
| hasExactSynonym | "Acute encephalopathy with biphasic seizures and late reduced diffusion" @en |
| hasExactSynonym | "二相性急性脳症" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_33_076_01.pdf |
| rdfs:label | "痙攣重積型急性脳症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_33_076/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018198 |
| http://nanbyodata.jp/ontology/nanbyo#3000891 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "703" xsd:string |
| dcterms:identifier | "3000891" xsd:string |
| hasExactSynonym | "Autoimmune encephalitis / encephalopathy" @en |
| hasExactSynonym | "自己免疫介在性脳症" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_34_077_01.pdf |
| rdfs:label | "自己免疫介在性脳炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_34_077/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000892 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "704" xsd:string |
| dcterms:identifier | "3000892" xsd:string |
| hasExactSynonym | "AERRPS" @en |
| hasExactSynonym | "acute encephalitis with refractory, repetitive partial seizures" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_35_078_01.pdf |
| rdfs:label | "難治頻回部分発作重積型急性脳炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_35_078/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015584 |
| http://nanbyodata.jp/ontology/nanbyo#3000893 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "705" xsd:string |
| dcterms:identifier | "3000893" xsd:string |
| hasExactSynonym | "multiple sclerosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_36_079_01.pdf |
| rdfs:label | "多発性硬化症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_36_079/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005301 |
| http://nanbyodata.jp/ontology/nanbyo#3000894 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "706" xsd:string |
| dcterms:identifier | "3000894" xsd:string |
| hasExactSynonym | "CIDP" @en |
| hasExactSynonym | "Chronic inflammatory demyelinating polyneuropathy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_37_080_01.pdf |
| rdfs:label | "慢性炎症性脱髄性多発神経炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_37_080/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002335 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0006702 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007691 |
| http://nanbyodata.jp/ontology/nanbyo#3000895 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "707" xsd:string |
| dcterms:identifier | "3000895" xsd:string |
| hasExactSynonym | "MG" @en |
| hasExactSynonym | "myasthenia gravis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_11_38_081_01.pdf |
| rdfs:label | "重症筋無力症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/11_38_081/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009688 |
| http://nanbyodata.jp/ontology/nanbyo#3000896 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "708" xsd:string |
| dcterms:identifier | "3000896" xsd:string |
| hasExactSynonym | "lactose intolerance" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_01_001_01.pdf |
| rdfs:label | "乳糖不耐症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_01_001/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009116 |
| http://nanbyodata.jp/ontology/nanbyo#3000897 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "709" xsd:string |
| dcterms:identifier | "3000897" xsd:string |
| hasExactSynonym | "CSID" @en |
| hasExactSynonym | "congenital sucrase-isomaltase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_01_002_01.pdf |
| rdfs:label | "ショ糖イソ麦芽糖分解酵素欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_01_002/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009114 |
| http://nanbyodata.jp/ontology/nanbyo#3000898 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "710" xsd:string |
| dcterms:identifier | "3000898" xsd:string |
| hasExactSynonym | "GGM" @en |
| hasExactSynonym | "glucose-galactose malabsorption" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_01_003_01.pdf |
| rdfs:label | "先天性グルコース・ガラクトース吸収不良症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_01_003/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011731 |
| http://nanbyodata.jp/ontology/nanbyo#3000899 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "711" xsd:string |
| dcterms:identifier | "3000899" xsd:string |
| hasExactSynonym | "enterokinase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_01_004_01.pdf |
| rdfs:label | "エンテロキナーゼ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_01_004/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009173 |
| http://nanbyodata.jp/ontology/nanbyo#3000900 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "712" xsd:string |
| dcterms:identifier | "3000900" xsd:string |
| hasExactSynonym | "amylase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_01_005_01.pdf |
| rdfs:label | "アミラーゼ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_01_005/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000901 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "713" xsd:string |
| dcterms:identifier | "3000901" xsd:string |
| hasExactSynonym | "lipase deficiency" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_01_006_01.pdf |
| rdfs:label | "リパーゼ欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_01_006/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000902 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "714" xsd:string |
| dcterms:identifier | "3000902" xsd:string |
| hasExactSynonym | "microvillus inclusion disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_01_007_01.pdf |
| rdfs:label | "微絨毛封入体病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_01_007/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009635 |
| http://nanbyodata.jp/ontology/nanbyo#3000903 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "715" xsd:string |
| dcterms:identifier | "3000903" xsd:string |
| hasExactSynonym | "Intestinal Lymphangiectasia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_01_008_01.pdf |
| rdfs:label | "腸リンパ管拡張症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_01_008/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000904 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "716" xsd:string |
| dcterms:identifier | "3000904" xsd:string |
| hasExactSynonym | "FAP" @en |
| hasExactSynonym | "familial adenomatous polyposis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_02_009_01.pdf |
| rdfs:label | "家族性腺腫性ポリポーシス" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_02_009/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0021055 |
| http://nanbyodata.jp/ontology/nanbyo#3000905 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "717" xsd:string |
| dcterms:identifier | "3000905" xsd:string |
| hasExactSynonym | "Juvenile polyposis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_02_010_01.pdf |
| rdfs:label | "若年性ポリポーシス" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_02_010/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008276 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017380 |
| http://nanbyodata.jp/ontology/nanbyo#3000906 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "718" xsd:string |
| dcterms:identifier | "3000906" xsd:string |
| hasExactSynonym | "Peutz-Jeghers syndrome" @en |
| hasExactSynonym | "Peutz-Jeghers症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_02_011_01.pdf |
| rdfs:label | "ポイツ・ジェガース症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_02_011/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008280 |
| http://nanbyodata.jp/ontology/nanbyo#3000907 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "719" xsd:string |
| dcterms:identifier | "3000907" xsd:string |
| hasExactSynonym | "Cowden syndrome" @en |
| hasExactSynonym | "Cowden症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_02_012_01.pdf |
| rdfs:label | "カウデン症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_02_012/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016063 |
| http://nanbyodata.jp/ontology/nanbyo#3000908 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "720" xsd:string |
| dcterms:identifier | "3000908" xsd:string |
| hasExactSynonym | "Cyclic Vomiting Syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_03_013_01.pdf |
| rdfs:label | "周期性嘔吐症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_03_013/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000909 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "721" xsd:string |
| dcterms:identifier | "3000909" xsd:string |
| hasExactSynonym | "Ulcerative colitis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_04_014_01.pdf |
| rdfs:label | "潰瘍性大腸炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_04_014/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005101 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009960 |
| http://nanbyodata.jp/ontology/nanbyo#3000910 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "722" xsd:string |
| dcterms:identifier | "3000910" xsd:string |
| hasExactSynonym | "Crohn disease" @en |
| hasExactSynonym | "Crohn病" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_04_015_01.pdf |
| rdfs:label | "クローン病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_04_015/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005011 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009960 |
| http://nanbyodata.jp/ontology/nanbyo#3000911 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "723" xsd:string |
| dcterms:identifier | "3000911" xsd:string |
| hasExactSynonym | "Early-onset Inflammatory Bowel Disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_04_016_01.pdf |
| rdfs:label | "早期発症型炎症性腸疾患" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_04_016/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000912 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "724" xsd:string |
| dcterms:identifier | "3000912" xsd:string |
| hasExactSynonym | "IPEX syndrome" @en |
| hasExactSynonym | "IPEX症候群" @ja |
| hasExactSynonym | "autoimmune enteropathy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_04_017_01.pdf |
| rdfs:label | "自己免疫性腸症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_04_017/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010580 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019787 |
| http://nanbyodata.jp/ontology/nanbyo#3000913 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "725" xsd:string |
| dcterms:identifier | "3000913" xsd:string |
| hasExactSynonym | "CEAS" @en |
| hasExactSynonym | "Chronic enteropathy associated with SLCO2A1" @en |
| hasExactSynonym | "Chronic nonspecific multiple ulcers of the small intestine" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_05_018_01.pdf |
| rdfs:label | "非特異性多発性小腸潰瘍症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_05_018/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018766 |
| http://nanbyodata.jp/ontology/nanbyo#3000914 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "726" xsd:string |
| dcterms:identifier | "3000914" xsd:string |
| hasExactSynonym | "Acute Liver Failure" @en |
| hasExactSynonym | "hepatic coma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_06_019_01.pdf |
| rdfs:label | "急性肝不全" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_06_019/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001548 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019542 |
| http://nanbyodata.jp/ontology/nanbyo#3000915 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "727" xsd:string |
| dcterms:identifier | "3000915" xsd:string |
| hasExactSynonym | "Neonatal Hemochromatosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_07_020_01.pdf |
| rdfs:label | "新生児ヘモクロマトーシス" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_07_020/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009275 |
| http://nanbyodata.jp/ontology/nanbyo#3000916 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "728" xsd:string |
| dcterms:identifier | "3000916" xsd:string |
| hasExactSynonym | "AIH" @en |
| hasExactSynonym | "Autoimmune hepatitis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_07_021_01.pdf |
| rdfs:label | "自己免疫性肝炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_07_021/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016264 |
| http://nanbyodata.jp/ontology/nanbyo#3000917 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "729" xsd:string |
| dcterms:identifier | "3000917" xsd:string |
| hasExactSynonym | "PSC" @en |
| hasExactSynonym | "Primary sclerosing cholangitis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_07_022_01.pdf |
| rdfs:label | "原発性硬化性胆管炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_07_022/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002808 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013433 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018646 |
| http://nanbyodata.jp/ontology/nanbyo#3000918 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "730" xsd:string |
| dcterms:identifier | "3000918" xsd:string |
| hasExactSynonym | "biliary atresia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_08_023_01.pdf |
| rdfs:label | "胆道閉鎖症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_08_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008867 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0028737 |
| http://nanbyodata.jp/ontology/nanbyo#3000919 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "731" xsd:string |
| dcterms:identifier | "3000919" xsd:string |
| hasExactSynonym | "Alagille syndrome" @en |
| hasExactSynonym | "Alagille症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_08_024_01.pdf |
| rdfs:label | "アラジール症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_08_024/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007318 |
| http://nanbyodata.jp/ontology/nanbyo#3000920 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "732" xsd:string |
| dcterms:identifier | "3000920" xsd:string |
| hasExactSynonym | "Non-syndromic paucity of intrahepatic bile duct" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_08_025_01.pdf |
| rdfs:label | "肝内胆管減少症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_08_025/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000921 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "733" xsd:string |
| dcterms:identifier | "3000921" xsd:string |
| hasExactSynonym | "PFIC" @en |
| hasExactSynonym | "progressive familial intrahepatic cholestasis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_08_026_01.pdf |
| rdfs:label | "進行性家族性肝内胆汁うっ滞症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_08_026/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008892 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015762 |
| http://nanbyodata.jp/ontology/nanbyo#3000922 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "734" xsd:string |
| dcterms:identifier | "3000922" xsd:string |
| hasExactSynonym | "Caroli Disease" @en |
| hasExactSynonym | "カロリ病" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_08_027_01.pdf |
| rdfs:label | "先天性多発肝内胆管拡張症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_08_027/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010913 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018808 |
| http://nanbyodata.jp/ontology/nanbyo#3000923 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "735" xsd:string |
| dcterms:identifier | "3000923" xsd:string |
| hasExactSynonym | "congenital biliary dilatation" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_08_028_01.pdf |
| rdfs:label | "先天性胆道拡張症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_08_028/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000924 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "736" xsd:string |
| dcterms:identifier | "3000924" xsd:string |
| hasExactSynonym | "CHF" @en |
| hasExactSynonym | "congenital hepatic fibrosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_09_029_01.pdf |
| rdfs:label | "先天性肝線維症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_09_029/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005009 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0022263 |
| http://nanbyodata.jp/ontology/nanbyo#3000925 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "737" xsd:string |
| dcterms:identifier | "3000925" xsd:string |
| hasExactSynonym | "Liver Cirrhosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_09_030_01.pdf |
| rdfs:label | "肝硬変症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_09_030/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005155 |
| http://nanbyodata.jp/ontology/nanbyo#3000926 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "738" xsd:string |
| dcterms:identifier | "3000926" xsd:string |
| hasExactSynonym | "Banti syndrome" @en |
| hasExactSynonym | "portal hypertension" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_10_031_01.pdf |
| rdfs:label | "門脈圧亢進症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_10_031/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005080 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0021969 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0037251 |
| http://nanbyodata.jp/ontology/nanbyo#3000927 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "739" xsd:string |
| dcterms:identifier | "3000927" xsd:string |
| hasExactSynonym | "Congenital Absence of Portal Vein" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_10_032_01.pdf |
| rdfs:label | "先天性門脈欠損症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_10_032/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000928 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "740" xsd:string |
| dcterms:identifier | "3000928" xsd:string |
| hasExactSynonym | "Congenital Hepatoportal Arteriovenous Fistula" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_10_033_01.pdf |
| rdfs:label | "門脈・肝動脈瘻" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_10_033/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000929 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "741" xsd:string |
| dcterms:identifier | "3000929" xsd:string |
| hasExactSynonym | "Crigler-Najjar syndrome" @en |
| hasExactSynonym | "Crigler-Najjar症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_11_034_01.pdf |
| rdfs:label | "クリグラー・ナジャー症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_11_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009044 |
| http://nanbyodata.jp/ontology/nanbyo#3000930 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "742" xsd:string |
| dcterms:identifier | "3000930" xsd:string |
| hasExactSynonym | "Hereditary Pancreatitis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_12_035_01.pdf |
| rdfs:label | "遺伝性膵炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_12_035/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008185 |
| http://nanbyodata.jp/ontology/nanbyo#3000931 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "743" xsd:string |
| dcterms:identifier | "3000931" xsd:string |
| hasExactSynonym | "Autoimmune pancreatitis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_12_036_01.pdf |
| rdfs:label | "自己免疫性膵炎" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_12_036/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015175 |
| http://nanbyodata.jp/ontology/nanbyo#3000932 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "744" xsd:string |
| dcterms:identifier | "3000932" xsd:string |
| hasExactSynonym | "Short Bowel Syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_13_037_01.pdf |
| rdfs:label | "短腸症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_13_037/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015183 |
| http://nanbyodata.jp/ontology/nanbyo#3000933 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "745" xsd:string |
| dcterms:identifier | "3000933" xsd:string |
| hasExactSynonym | "Hirschsprung disease" @en |
| hasExactSynonym | "Hirschsprung病" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_14_038_01.pdf |
| rdfs:label | "ヒルシュスプルング病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_14_038/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007723 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018309 |
| http://nanbyodata.jp/ontology/nanbyo#3000934 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "746" xsd:string |
| dcterms:identifier | "3000934" xsd:string |
| hasExactSynonym | "chronic idiopathic intestinal pseudo-obstruction" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_14_039_01.pdf |
| rdfs:label | "慢性特発性偽性腸閉塞症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_14_039/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000935 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "747" xsd:string |
| dcterms:identifier | "3000935" xsd:string |
| hasExactSynonym | "MMIHS" @en |
| hasExactSynonym | "Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_14_040_01.pdf |
| rdfs:label | "巨大膀胱短小結腸腸管蠕動不全症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_14_040/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007960 |
| http://nanbyodata.jp/ontology/nanbyo#3000936 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "748" xsd:string |
| dcterms:identifier | "3000936" xsd:string |
| hasExactSynonym | "Congenital Isolated Hypoganglionosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_14_041_01.pdf |
| rdfs:label | "腸管神経節細胞僅少症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_14_041/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000937 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "749" xsd:string |
| dcterms:identifier | "3000937" xsd:string |
| hasExactSynonym | "critical infantile hepatic haemangioma" @en |
| hasExactSynonym | "giant hepatic haemangiomas" @en |
| hasExactSynonym | "乳幼児難治性肝血管腫" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_15_042_01.pdf |
| rdfs:label | "肝巨大血管腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_15_042/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000938 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "750" xsd:string |
| dcterms:identifier | "3000938" xsd:string |
| hasExactSynonym | "persistent cloaca" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_16_043_01.pdf |
| rdfs:label | "総排泄腔遺残" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_16_043/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000939 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "751" xsd:string |
| dcterms:identifier | "3000939" xsd:string |
| hasExactSynonym | "Cloacal extrophy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_12_16_044_01.pdf |
| rdfs:label | "総排泄腔外反症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/12_16_044/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000940 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "752" xsd:string |
| dcterms:identifier | "3000940" xsd:string |
| hasExactSynonym | "Coffin-Lowry syndrome" @en |
| hasExactSynonym | "Coffin-Lowry症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_001_01.pdf |
| rdfs:label | "コフィン・ローリー症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_001/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010561 |
| http://nanbyodata.jp/ontology/nanbyo#3000941 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "753" xsd:string |
| dcterms:identifier | "3000941" xsd:string |
| hasExactSynonym | "Sotos syndrome" @en |
| hasExactSynonym | "Sotos症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_002_01.pdf |
| rdfs:label | "ソトス症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_002/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007299 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019349 |
| http://nanbyodata.jp/ontology/nanbyo#3000942 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "754" xsd:string |
| dcterms:identifier | "3000942" xsd:string |
| hasExactSynonym | "Smith-Magenis syndrome" @en |
| hasExactSynonym | "Smith-Magenis症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_003_01.pdf |
| rdfs:label | "スミス・マギニス症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_003/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008434 |
| http://nanbyodata.jp/ontology/nanbyo#3000943 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "755" xsd:string |
| dcterms:identifier | "3000943" xsd:string |
| hasExactSynonym | "Rubinstein-Taybi syndrome" @en |
| hasExactSynonym | "Rubinstein-Taybi症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_004_01.pdf |
| rdfs:label | "ルビンシュタイン・テイビ症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_004/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019188 |
| http://nanbyodata.jp/ontology/nanbyo#3000944 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "756" xsd:string |
| dcterms:identifier | "3000944" xsd:string |
| hasExactSynonym | "Kabuki syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_005_01.pdf |
| rdfs:label | "歌舞伎症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_005/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007843 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016512 |
| http://nanbyodata.jp/ontology/nanbyo#3000945 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "757" xsd:string |
| dcterms:identifier | "3000945" xsd:string |
| hasExactSynonym | "Weaver syndrome" @en |
| hasExactSynonym | "Weaver症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_006_01.pdf |
| rdfs:label | "ウィーバー症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_006/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010193 |
| http://nanbyodata.jp/ontology/nanbyo#3000946 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "758" xsd:string |
| dcterms:identifier | "3000946" xsd:string |
| hasExactSynonym | "Cornelia de Lange syndrome" @en |
| hasExactSynonym | "Cornelia de Lange症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_007_01.pdf |
| rdfs:label | "コルネリア・デランゲ症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_007/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016033 |
| http://nanbyodata.jp/ontology/nanbyo#3000947 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "759" xsd:string |
| dcterms:identifier | "3000947" xsd:string |
| hasExactSynonym | "Beckwith-Wiedemann syndrome" @en |
| hasExactSynonym | "Beckwith-Wiedemann症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_008_01.pdf |
| rdfs:label | "ベックウィズ・ヴィーデマン症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_008/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007534 |
| http://nanbyodata.jp/ontology/nanbyo#3000948 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "760" xsd:string |
| dcterms:identifier | "3000948" xsd:string |
| hasExactSynonym | "Angelman syndrome" @en |
| hasExactSynonym | "Angelman症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_009_01.pdf |
| rdfs:label | "アンジェルマン症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_009/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007113 |
| http://nanbyodata.jp/ontology/nanbyo#3000949 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "761" xsd:string |
| dcterms:identifier | "3000949" xsd:string |
| hasExactSynonym | "5p- syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_010_01.pdf |
| rdfs:label | "5p-症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_010/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007404 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008297 |
| http://nanbyodata.jp/ontology/nanbyo#3000950 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "762" xsd:string |
| dcterms:identifier | "3000950" xsd:string |
| hasExactSynonym | "4p- Syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_011_01.pdf |
| rdfs:label | "4p-症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_011/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008684 |
| http://nanbyodata.jp/ontology/nanbyo#3000951 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "763" xsd:string |
| dcterms:identifier | "3000951" xsd:string |
| hasExactSynonym | "18 trisomy syndrome" @en |
| hasExactSynonym | "Chromosome 18 duplication" @en |
| hasExactSynonym | "Edwards syndrome" @en |
| hasExactSynonym | "Trisomy 18" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_012_01.pdf |
| rdfs:label | "18トリソミー症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_012/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010336 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018071 |
| http://nanbyodata.jp/ontology/nanbyo#3000952 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "764" xsd:string |
| dcterms:identifier | "3000952" xsd:string |
| hasExactSynonym | "13 trisomy syndrome" @en |
| hasExactSynonym | "Patau syndrome" @en |
| hasExactSynonym | "Trisomy 13" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_013_01.pdf |
| rdfs:label | "13トリソミー症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_013/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0001333 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018068 |
| http://nanbyodata.jp/ontology/nanbyo#3000953 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "765" xsd:string |
| dcterms:identifier | "3000953" xsd:string |
| hasExactSynonym | "Down syndrome" @en |
| hasExactSynonym | "Down症候群" @ja |
| hasExactSynonym | "trisomy 21" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_014_01.pdf |
| rdfs:label | "ダウン症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_014/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008608 |
| http://nanbyodata.jp/ontology/nanbyo#3000954 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "766" xsd:string |
| dcterms:identifier | "3000954" xsd:string |
| hasExactSynonym | "Autosome" @en |
| hasExactSynonym | "Chromosomal abnormalities" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_015_01.pdf |
| rdfs:label | "9から14までに掲げるもののほか、常染色体異常" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_015/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000955 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "767" xsd:string |
| dcterms:identifier | "3000955" xsd:string |
| hasExactSynonym | "Cardio-facio-cutaneuos syndrome" @en |
| hasExactSynonym | "cardio-facio-cutaneous症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_016_01.pdf |
| rdfs:label | "CFC症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_016/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000956 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "768" xsd:string |
| dcterms:identifier | "3000956" xsd:string |
| hasExactSynonym | "Marfan syndrome" @en |
| hasExactSynonym | "Marfan症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_017_01.pdf |
| rdfs:label | "マルファン症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_017/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007947 |
| http://nanbyodata.jp/ontology/nanbyo#3000957 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "769" xsd:string |
| dcterms:identifier | "3000957" xsd:string |
| hasExactSynonym | "Loeys-Dietz syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_018_01.pdf |
| rdfs:label | "ロイス・ディーツ症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_018/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018954 |
| http://nanbyodata.jp/ontology/nanbyo#3000958 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "770" xsd:string |
| dcterms:identifier | "3000958" xsd:string |
| hasExactSynonym | "Camurati-Engelmann disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_019_01.pdf |
| rdfs:label | "カムラティ・エンゲルマン症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_019/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007542 |
| http://nanbyodata.jp/ontology/nanbyo#3000959 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "771" xsd:string |
| dcterms:identifier | "3000959" xsd:string |
| hasExactSynonym | "Costello syndrome" @en |
| hasExactSynonym | "Costello症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_020_01.pdf |
| rdfs:label | "コステロ症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_020/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009026 |
| http://nanbyodata.jp/ontology/nanbyo#3000960 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "772" xsd:string |
| dcterms:identifier | "3000960" xsd:string |
| hasExactSynonym | "CHARGE syndrome" @en |
| hasExactSynonym | "CHARGE症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_021_01.pdf |
| rdfs:label | "チャージ症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_021/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008965 |
| http://nanbyodata.jp/ontology/nanbyo#3000961 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "773" xsd:string |
| dcterms:identifier | "3000961" xsd:string |
| hasExactSynonym | "HSS" @en |
| hasExactSynonym | "Hallermann-Streiff syndrome" @en |
| hasExactSynonym | "Hallermann-Streiff-Francois syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_022_01.pdf |
| rdfs:label | "ハーラマン・ストライフ症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_022/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009318 |
| http://nanbyodata.jp/ontology/nanbyo#3000962 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "774" xsd:string |
| dcterms:identifier | "3000962" xsd:string |
| hasExactSynonym | "Bloch-Sulzberger Syndrome" @en |
| hasExactSynonym | "Incontinentia Pigmenti" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_023_01.pdf |
| rdfs:label | "色素失調症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_023/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010631 |
| http://nanbyodata.jp/ontology/nanbyo#3000963 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "775" xsd:string |
| dcterms:identifier | "3000963" xsd:string |
| hasExactSynonym | "Antley-Bixler Syndrome" @en |
| hasExactSynonym | "Antley-Bixler症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_024_01.pdf |
| rdfs:label | "アントレー・ビクスラー症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_024/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008803 |
| http://nanbyodata.jp/ontology/nanbyo#3000964 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "776" xsd:string |
| dcterms:identifier | "3000964" xsd:string |
| hasExactSynonym | "Pfeiffer syndrome" @en |
| hasExactSynonym | "Pfeiffer症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_025_01.pdf |
| rdfs:label | "ファイファー症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_025/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005810 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007043 |
| http://nanbyodata.jp/ontology/nanbyo#3000965 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "777" xsd:string |
| dcterms:identifier | "3000965" xsd:string |
| hasExactSynonym | "Coffin-Siris syndrome" @en |
| hasExactSynonym | "Coffin-Siris症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_026_01.pdf |
| rdfs:label | "コフィン・シリス症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_026/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015452 |
| http://nanbyodata.jp/ontology/nanbyo#3000966 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "778" xsd:string |
| dcterms:identifier | "3000966" xsd:string |
| hasExactSynonym | "Simpson-Golabi-Behmel syndrome" @en |
| hasExactSynonym | "Simpson-Golabi-Behmel症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_027_01.pdf |
| rdfs:label | "シンプソン・ゴラビ・ベーメル症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_027/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010731 |
| http://nanbyodata.jp/ontology/nanbyo#3000967 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "779" xsd:string |
| dcterms:identifier | "3000967" xsd:string |
| hasExactSynonym | "Smith-Lemli-Opitz syndrome" @en |
| hasExactSynonym | "Smith-Lemli-Opitz症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_028_01.pdf |
| rdfs:label | "スミス・レムリ・オピッツ症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_028/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010035 |
| http://nanbyodata.jp/ontology/nanbyo#3000968 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "780" xsd:string |
| dcterms:identifier | "3000968" xsd:string |
| hasExactSynonym | "Moebius syndrome" @en |
| hasExactSynonym | "Moebius症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_029_01.pdf |
| rdfs:label | "メビウス症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_029/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008006 |
| http://nanbyodata.jp/ontology/nanbyo#3000969 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "781" xsd:string |
| dcterms:identifier | "3000969" xsd:string |
| hasExactSynonym | "Mowat-Wilson syndrome" @en |
| hasExactSynonym | "Mowat-Wilson症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_030_01.pdf |
| rdfs:label | "モワット・ウィルソン症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_030/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009341 |
| http://nanbyodata.jp/ontology/nanbyo#3000970 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "782" xsd:string |
| dcterms:identifier | "3000970" xsd:string |
| hasExactSynonym | "Young-Simpson syndrome" @en |
| hasExactSynonym | "Young-Simpson症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_031_01.pdf |
| rdfs:label | "ヤング・シンプソン症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_031/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0011365 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017393 |
| http://nanbyodata.jp/ontology/nanbyo#3000971 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "783" xsd:string |
| dcterms:identifier | "3000971" xsd:string |
| hasExactSynonym | "VATER syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_032_01.pdf |
| rdfs:label | "VATER症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_032/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008642 |
| http://nanbyodata.jp/ontology/nanbyo#3000972 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "784" xsd:string |
| dcterms:identifier | "3000972" xsd:string |
| hasExactSynonym | "MECP2 duplication syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_033_01.pdf |
| rdfs:label | "MECP２重複症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_033/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010283 |
| http://nanbyodata.jp/ontology/nanbyo#3000973 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "785" xsd:string |
| dcterms:identifier | "3000973" xsd:string |
| hasExactSynonym | "Takenouchi-Kosaki syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_13_01_034_01.pdf |
| rdfs:label | "武内・小崎症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/13_01_034/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0014757 |
| http://nanbyodata.jp/ontology/nanbyo#3000974 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "786" xsd:string |
| dcterms:identifier | "3000974" xsd:string |
| hasExactSynonym | "OCA" @en |
| hasExactSynonym | "oculocutaneous albinism" @en |
| hasExactSynonym | "先天性白皮症" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_14_01_001_01.pdf |
| rdfs:label | "眼皮膚白皮症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/14_01_001/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018910 |
| http://nanbyodata.jp/ontology/nanbyo#3000975 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "787" xsd:string |
| dcterms:identifier | "3000975" xsd:string |
| hasExactSynonym | "epidermolytic ichthyosis and superficial epidermolytic ichthyos" @en |
| hasExactSynonym | "keratinopathic ichthyosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_14_02_002_01.pdf |
| rdfs:label | "ケラチン症性魚鱗癬" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/14_02_002/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017266 |
| http://nanbyodata.jp/ontology/nanbyo#3000976 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "787" xsd:string |
| dcterms:identifier | "3000976" xsd:string |
| hasExactSynonym | "Autosomal dominant epidermolytic ichthyosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_14_02_002_01.pdf |
| rdfs:label | "表皮融解性魚鱗癬（優性）" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/14_02_002/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000975 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007239 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0020702 |
| http://nanbyodata.jp/ontology/nanbyo#3000977 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "787" xsd:string |
| dcterms:identifier | "3000977" xsd:string |
| hasExactSynonym | "Autosomal recessive epidermolytic ichthyosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_14_02_002_01.pdf |
| rdfs:label | "表皮融解性魚鱗癬（劣性）" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/14_02_002/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000975 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0044742 |
| http://nanbyodata.jp/ontology/nanbyo#3000978 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "787" xsd:string |
| dcterms:identifier | "3000978" xsd:string |
| hasExactSynonym | "superficial epidermolytic ichthyos" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_14_02_002_01.pdf |
| rdfs:label | "表在性表皮融解性魚鱗癬" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/14_02_002/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000975 |
| http://nanbyodata.jp/ontology/nanbyo#3000979 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "788" xsd:string |
| dcterms:identifier | "3000979" xsd:string |
| hasExactSynonym | "autosomal recessive congenital ichthyosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_14_02_003_01.pdf |
| rdfs:label | "常染色体劣性遺伝性魚鱗癬" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/14_02_003/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017265 |
| http://nanbyodata.jp/ontology/nanbyo#3000980 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "789" xsd:string |
| dcterms:identifier | "3000980" xsd:string |
| hasExactSynonym | "harlequin ichthyosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_14_02_004_01.pdf |
| rdfs:label | "道化師様魚鱗癬" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/14_02_004/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009443 |
| http://nanbyodata.jp/ontology/nanbyo#3000981 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "790" xsd:string |
| dcterms:identifier | "3000981" xsd:string |
| hasExactSynonym | "Netherton syndrome" @en |
| hasExactSynonym | "Netherton症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_14_02_005_01.pdf |
| rdfs:label | "ネザートン症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/14_02_005/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009735 |
| http://nanbyodata.jp/ontology/nanbyo#3000982 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "791" xsd:string |
| dcterms:identifier | "3000982" xsd:string |
| hasExactSynonym | "Sjogren-Larsson syndrome" @en |
| hasExactSynonym | "Sjogren-Larsson症候群" @ja |
| hasExactSynonym | "Sjögren-Larsson syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_14_02_006_01.pdf |
| rdfs:label | "シェーグレン・ラルソン症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/14_02_006/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010031 |
| http://nanbyodata.jp/ontology/nanbyo#3000983 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "792" xsd:string |
| dcterms:identifier | "3000983" xsd:string |
| hasExactSynonym | "Other congenital ichthyoses" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_14_02_007_01.pdf |
| rdfs:label | "2から6までに掲げるもののほか、先天性魚鱗癬" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/14_02_007/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000984 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "792" xsd:string |
| dcterms:identifier | "3000984" xsd:string |
| hasExactSynonym | "keratitis-ichthyosis-deafness syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_14_02_007_01.pdf |
| rdfs:label | "KID症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/14_02_007/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000983 |
| http://nanbyodata.jp/ontology/nanbyo#3000985 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "792" xsd:string |
| dcterms:identifier | "3000985" xsd:string |
| hasExactSynonym | "Dorfman-Chanarin syndrome" @en |
| hasExactSynonym | "neutral lipid storage disease" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_14_02_007_01.pdf |
| rdfs:label | "Dorfman-Chanarin症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/14_02_007/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000983 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010155 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0015611 |
| http://nanbyodata.jp/ontology/nanbyo#3000986 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "792" xsd:string |
| dcterms:identifier | "3000986" xsd:string |
| hasExactSynonym | "Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_14_02_007_01.pdf |
| rdfs:label | "CHILD症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/14_02_007/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000983 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0010621 |
| http://nanbyodata.jp/ontology/nanbyo#3000987 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "792" xsd:string |
| dcterms:identifier | "3000987" xsd:string |
| hasExactSynonym | "Ichthyosis-follicularis-atrichia-photophobia syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_14_02_007_01.pdf |
| rdfs:label | "IFAP症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/14_02_007/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000983 |
| http://nanbyodata.jp/ontology/nanbyo#3000988 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "793" xsd:string |
| dcterms:identifier | "3000988" xsd:string |
| hasExactSynonym | "epidermolysis bullosa" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_14_03_008_01.pdf |
| rdfs:label | "表皮水疱症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/14_03_008/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0006541 |
| http://nanbyodata.jp/ontology/nanbyo#3000989 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "794" xsd:string |
| dcterms:identifier | "3000989" xsd:string |
| hasExactSynonym | "pustular psoriasis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_14_04_009_01.pdf |
| rdfs:label | "膿疱性乾癬（汎発型）" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/14_04_009/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0022205 |
| http://nanbyodata.jp/ontology/nanbyo#3000990 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "795" xsd:string |
| dcterms:identifier | "3000990" xsd:string |
| hasExactSynonym | "XP" @en |
| hasExactSynonym | "Xeroderma pigmentosum" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_14_05_010_01.pdf |
| rdfs:label | "色素性乾皮症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/14_05_010/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019600 |
| http://nanbyodata.jp/ontology/nanbyo#3000991 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "796" xsd:string |
| dcterms:identifier | "3000991" xsd:string |
| hasExactSynonym | "neurofibromatosis type 1" @en |
| hasExactSynonym | "von Recklinghausen's disease" @en |
| hasExactSynonym | "神経線維腫症Ⅰ型" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_14_06_011_01.pdf |
| rdfs:label | "レックリングハウゼン病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/14_06_011/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018975 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0021061 |
| http://nanbyodata.jp/ontology/nanbyo#3000992 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "797" xsd:string |
| dcterms:identifier | "3000992" xsd:string |
| hasExactSynonym | "pachydermoperiostosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_14_07_012_01.pdf |
| rdfs:label | "肥厚性皮膚骨膜症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/14_07_012/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009799 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016620 |
| http://nanbyodata.jp/ontology/nanbyo#3000993 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "798" xsd:string |
| dcterms:identifier | "3000993" xsd:string |
| hasExactSynonym | "anhidrotic ectodermal dysplsia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_14_08_013_01.pdf |
| rdfs:label | "無汗性外胚葉形成不全" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/14_08_013/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000994 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "799" xsd:string |
| dcterms:identifier | "3000994" xsd:string |
| hasExactSynonym | "Stevens-Johnson syndrome" @en |
| hasExactSynonym | "Stevens-Johnson症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_14_09_014_01.pdf |
| rdfs:label | "スティーヴンス・ジョンソン症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/14_09_014/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018229 |
| http://nanbyodata.jp/ontology/nanbyo#3000995 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "799" xsd:string |
| dcterms:identifier | "3000995" xsd:string |
| hasExactSynonym | "Toxic epidermal necrolysis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_14_09_014_01.pdf |
| rdfs:label | "中毒性表皮壊死症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/14_09_014/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3000994 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019810 |
| http://nanbyodata.jp/ontology/nanbyo#3000996 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "800" xsd:string |
| dcterms:identifier | "3000996" xsd:string |
| hasExactSynonym | "Thoracic insufficiency syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_15_01_001_01.pdf |
| rdfs:label | "胸郭不全症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/15_01_001/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3000997 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "801" xsd:string |
| dcterms:identifier | "3000997" xsd:string |
| hasExactSynonym | "Achondroplasia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_15_02_002_01.pdf |
| rdfs:label | "軟骨無形成症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/15_02_002/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007037 |
| http://nanbyodata.jp/ontology/nanbyo#3000998 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "802" xsd:string |
| dcterms:identifier | "3000998" xsd:string |
| hasExactSynonym | "Hypochondroplasia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_15_02_003_01.pdf |
| rdfs:label | "軟骨低形成症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/15_02_003/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007793 |
| http://nanbyodata.jp/ontology/nanbyo#3000999 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "803" xsd:string |
| dcterms:identifier | "3000999" xsd:string |
| hasExactSynonym | "Osteogenesis imperfecta" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_15_02_004_01.pdf |
| rdfs:label | "骨形成不全症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/15_02_004/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0013515 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019019 |
| http://nanbyodata.jp/ontology/nanbyo#3001000 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "804" xsd:string |
| dcterms:identifier | "3001000" xsd:string |
| hasExactSynonym | "Hypophosphatasia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_15_02_005_01.pdf |
| rdfs:label | "低ホスファターゼ症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/15_02_005/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0018570 |
| http://nanbyodata.jp/ontology/nanbyo#3001001 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "805" xsd:string |
| dcterms:identifier | "3001001" xsd:string |
| hasExactSynonym | "Osteopetrosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_15_02_006_01.pdf |
| rdfs:label | "大理石骨病" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/15_02_006/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0017198 |
| http://nanbyodata.jp/ontology/nanbyo#3001002 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "806" xsd:string |
| dcterms:identifier | "3001002" xsd:string |
| hasExactSynonym | "Hereditary multiple exostosis" @en |
| hasExactSynonym | "Multiple cartilaginous exostosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_15_02_007_01.pdf |
| rdfs:label | "多発性軟骨性外骨腫症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/15_02_007/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005508 |
| http://nanbyodata.jp/ontology/nanbyo#3001003 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "807" xsd:string |
| dcterms:identifier | "3001003" xsd:string |
| hasExactSynonym | "Dyschondroplasia" @en |
| hasExactSynonym | "Enchondromatosis" @en |
| hasExactSynonym | "Ollier disease" @en |
| hasExactSynonym | "Osteochondromatosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_15_02_008_01.pdf |
| rdfs:label | "内軟骨腫症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/15_02_008/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0005508 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007585 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008145 |
| http://nanbyodata.jp/ontology/nanbyo#3001004 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "808" xsd:string |
| dcterms:identifier | "3001004" xsd:string |
| hasExactSynonym | "Type II collagenopathy" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_15_02_009_01.pdf |
| rdfs:label | "2型コラーゲン異常症関連疾患" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/15_02_009/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3001005 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "809" xsd:string |
| dcterms:identifier | "3001005" xsd:string |
| hasExactSynonym | "Chondrodysplasia punctata, excluding Peroxisomal disorders" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_15_02_010_01.pdf |
| rdfs:label | "点状軟骨異形成症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/15_02_010/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3001006 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "810" xsd:string |
| dcterms:identifier | "3001006" xsd:string |
| hasExactSynonym | "Pseudoachondroplasia" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_15_02_011_01.pdf |
| rdfs:label | "偽性軟骨無形成症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/15_02_011/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008322 |
| http://nanbyodata.jp/ontology/nanbyo#3001007 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "811" xsd:string |
| dcterms:identifier | "3001007" xsd:string |
| hasExactSynonym | "Larsen syndrome" @en |
| hasExactSynonym | "Larsen症候群" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_15_02_012_01.pdf |
| rdfs:label | "ラーセン症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/15_02_012/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007875 |
| http://nanbyodata.jp/ontology/nanbyo#3001008 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "812" xsd:string |
| dcterms:identifier | "3001008" xsd:string |
| hasExactSynonym | "fibrodysplasia ossificans progressiva" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_15_02_013_01.pdf |
| rdfs:label | "進行性骨化性線維異形成症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/15_02_013/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0003964 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007606 |
| http://nanbyodata.jp/ontology/nanbyo#3001009 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "813" xsd:string |
| dcterms:identifier | "3001009" xsd:string |
| hasExactSynonym | "Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_15_02_014_01.pdf |
| rdfs:label | "ＴＲＰＶ４異常症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/15_02_014/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3001010 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "814" xsd:string |
| dcterms:identifier | "3001010" xsd:string |
| hasExactSynonym | "osteosclerotic diseases" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_15_02_015_01.pdf |
| rdfs:label | "骨硬化性疾患" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/15_02_015/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3001011 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "814" xsd:string |
| dcterms:identifier | "3001011" xsd:string |
| hasExactSynonym | "Pycnodysostosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_15_02_015_01.pdf |
| rdfs:label | "濃化異骨症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/15_02_015/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#3001010 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0009940 |
| http://nanbyodata.jp/ontology/nanbyo#3001012 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "815" xsd:string |
| dcterms:identifier | "3001012" xsd:string |
| hasExactSynonym | "Beals syndrome" @en |
| hasExactSynonym | "Beals症候群" @ja |
| hasExactSynonym | "Congenital contractural arachnodactyly" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_15_02_016_01.pdf |
| rdfs:label | "ビールズ症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/15_02_016/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007363 |
| http://nanbyodata.jp/ontology/nanbyo#3001013 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "816" xsd:string |
| dcterms:identifier | "3001013" xsd:string |
| hasExactSynonym | "Blue Rubber Bleb Nevus Syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_16_01_001_01.pdf |
| rdfs:label | "青色ゴムまり様母斑症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/16_01_001/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007203 |
| http://nanbyodata.jp/ontology/nanbyo#3001014 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "817" xsd:string |
| dcterms:identifier | "3001014" xsd:string |
| hasExactSynonym | "Gigantic venous malformation" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_16_01_002_01.pdf |
| rdfs:label | "巨大静脈奇形" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/16_01_002/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3001015 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "818" xsd:string |
| dcterms:identifier | "3001015" xsd:string |
| hasExactSynonym | "Gigantic arteriovenous malformation" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_16_01_003_01.pdf |
| rdfs:label | "巨大動静脈奇形" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/16_01_003/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3001016 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "819" xsd:string |
| dcterms:identifier | "3001016" xsd:string |
| hasExactSynonym | "Klippel-Trenanay-Weber syndrome" @en |
| hasExactSynonym | "Klippel-Trenanay-Weber症候群" @ja |
| hasExactSynonym | "Klippel–Trénaunay syndrome" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_16_01_004_01.pdf |
| rdfs:label | "クリッペル・トレノネー・ウェーバー症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/16_01_004/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019566 |
| http://nanbyodata.jp/ontology/nanbyo#3001017 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "820" xsd:string |
| dcterms:identifier | "3001017" xsd:string |
| hasExactSynonym | "Primary lymphedema" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_16_01_005_01.pdf |
| rdfs:label | "原発性リンパ浮腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/16_01_005/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019175 |
| http://nanbyodata.jp/ontology/nanbyo#3001018 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "821" xsd:string |
| dcterms:identifier | "3001018" xsd:string |
| hasExactSynonym | "lymphangioma" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_16_01_006_01.pdf |
| rdfs:label | "リンパ管腫" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/16_01_006/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0002013 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0016569 |
| http://nanbyodata.jp/ontology/nanbyo#3001019 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "822" xsd:string |
| dcterms:identifier | "3001019" xsd:string |
| hasExactSynonym | "lymphangiomatosis" @en |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_16_01_007_01.pdf |
| rdfs:label | "リンパ管腫症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/16_01_007/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| http://nanbyodata.jp/ontology/nanbyo#3001020 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "823" xsd:string |
| dcterms:identifier | "3001020" xsd:string |
| hasExactSynonym | "HHT" @en |
| hasExactSynonym | "Hereditary hemorrhagic telangiectasia" @en |
| hasExactSynonym | "Osler-Weber-Rendu disease" @en |
| hasExactSynonym | "オスラー病" @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_16_02_008_01.pdf |
| rdfs:label | "遺伝性出血性末梢血管拡張症" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/16_02_008/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0008535 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0019180 |
| http://nanbyodata.jp/ontology/nanbyo#3001021 (rdf:type owl:Class ) | |
|---|---|
| classifiedWith | http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx |
| has_notification_number | "824" xsd:string |
| dcterms:identifier | "3001021" xsd:string |
| hasExactSynonym | "Kasabach-Merritt syndrome" @en |
| hasExactSynonym | "Kasabach-Merritt症候群 " @ja |
| rdfs:isDefinedBy | https://www.shouman.jp/archives/doc/doc_16_03_009_01.pdf |
| rdfs:label | "カサバッハ・メリット症候群" @ja |
| rdfs:seeAlso | https://www.shouman.jp/disease/details/16_03_009/ |
| rdfs:subClassOf | http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001 |
| skos:exactMatch | http://purl.obolibrary.org/obo/MONDO_0007708 |
Properties
Object properties
| http://nanbyodata.jp/ontology/nanbyo#classifiedWith (rdf:type owl:ObjectProperty ) | |
|---|---|
| rdfs:label | "classified with" @en |
| http://nanbyodata.jp/ontology/nanbyo#has_notification_number (rdf:type owl:ObjectProperty ) | |
|---|---|
| rdfs:label | "has notification number" @en |